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Rectal Prolapse: Causes, Symptoms, and Modern Treatment Options

Rectal Prolapse: Causes, Symptoms, and Modern Treatment Options

Rectal prolapse is a distressing condition where the rectum protrudes through the anus. This issue often causes discomfort, embarrassment, and challenges with daily activities. Factors like age, weakened pelvic muscles, chronic constipation, or childbirth can contribute to this condition. 

In this blog, we’ll delve into the causes, symptoms, treatment options, and lifestyle changes that can help manage rectal prolapse effectively.

What is Rectal Prolapse?

The rectum, the final part of the large intestine before the anus, is where faeces gathers before exiting the body. Faecal arrival in the rectum signals the urge to defecate, with muscles aiding expulsion through the anus. 

Rectal prolapse involves the rectum shifting downwards into the anal canal, sometimes protruding outside. Healthcare terms this as prolapse, where a body part descends from its original position due to weakened muscles. Muscle weakening, common with ageing, can be hastened by factors like childbirth, chronic constipation, or diarrhoea, impacting the rectum’s stability.

You can also read: 10 things all couples must do before becoming pregnant

What are the Types of Rectal Prolapse?

There are three classifications of rectal prolapse, distinguished by the extent of rectal movement:

  1. Internal Prolapse: The rectum begins to descend but has not yet protruded through the anus.
  2. Partial Prolapse: Only a section of the rectum protrudes through the anus.
  3. Complete Prolapse: The entire rectum protrudes outward through the anus.

What are the Symptoms of Rectal Prolapse?

Rectal prolapse symptoms start slowly with a bulge sensation around the anus, resembling sitting on a ball. Over time, a reddish bulge may extend from the anus, visible with a mirror.

Key Symptoms to be Aware of include:

  • Rectal protrusion during bowel movements, which can usually be manually repositioned
  • Activities like walking or exercise may exacerbate rectal protrusion
  • Bleeding from the rectum’s inner lining
  • Potential loss of bowel control, leading to issues with both solid and liquid waste and gas expulsion

Moreover, rectal prolapse often coincides with chronic constipation (in 30-67% of cases) and diarrhoea (in about 15%).

Also Read: Abnormal uterine bleeding: symptoms, causes, diagnosis and treatment

What are the Causes of Rectal Prolapse?

Muscular weakness supporting the rectum can result in rectal prolapse, which can be influenced by various factors, such as:

  • Ageing.
  • Pregnancy and childbirth.
  • Prior pelvic injury or surgery.
  • Persistent constipation or diarrhoea.
  • Infections caused by intestinal parasites.
  • Chronic coughing or sneezing.
  • Damage to the spinal cord or nerves.
  • Cystic fibrosis.

What are the Complications of Rectal Prolapse?

Rectal prolapse can potentially result in serious complications, such as:

  1. Development of Ulcers: Ulcers within the rectum can lead to symptoms like bleeding and pain.
  2. Sphincter Damage: The sphincter, a circular muscle that controls the opening and closing of the anus, may be harmed, affecting its function.
  3. Bowel Control Issues: Rectal prolapse can contribute to difficulties in bowel control, potentially resulting in faecal incontinence.
  4. Gangrene: Without treatment, rectal prolapse can cause the rectum to become strangulated, cutting off its blood supply and leading to tissue death, a condition known as gangrene. This situation necessitates immediate medical intervention, typically through surgery

How is Rectal Prolapse Diagnosed?

Your healthcare provider will review your medical history and conduct a rectal exam. They might ask you to contract your muscles. Additional tests may be used for diagnosis, like:

  • Digital Rectal Exam: A hands-on examination using lubricated gloves.
  • Defecography: An imaging study capturing muscle activity during defecation, often utilising X-ray or MRI technology.
  • Anorectal Manometry: This test evaluates the strength and integrity of your anal sphincters.
  • Lower GI Series (Barium Enema): A sequence of X-ray images of your lower gastrointestinal tract.
  • Colonoscopy: A procedure to inspect the large intestine’s interior using a flexible scope.
  • Electromyography (EMG): This diagnostic test assesses nerve and muscle function in the anal area.

What is the Treatment for Rectal Prolapse?

Rectal prolapse treatment options depend on symptom severity and impact on quality of life. The treatment is also impacted by:

  • Delaying Treatment: Mild cases may be managed without immediate surgery if symptoms are tolerable.
  • Non-surgical Management: Softening stools can reduce straining and potentially resolve mild prolapse.

For definitive treatment, these surgical options are often necessary:

Abdominal Approach

Involves making an incision in the abdomen to reposition the rectum (abdominal rectopexy), sometimes done laparoscopically.

Rectal (Perineal) Repair

  • Altemeier Procedure: Removes protruding rectum and reconnects.
  • Delorme Procedure: Suitable for shorter prolapses, involves rectal lining removal and muscle folding.

These surgeries are recommended for severe cases or when laparoscopic procedures are unsuitable due to constipation.

How can You Prevent Rectal Prolapse?

Preventing rectal prolapse is challenging, but you can lower your risk by prioritizing intestinal health. To minimize constipation:

  • Incorporate high-fibre foods into your daily meals, such as fruits, vegetables, bran, and beans.
  • Limit intake of processed foods.
  • Stay hydrated by drinking ample water and fluids daily.
  • Engage in regular exercise most days of the week.
  • Practice stress management through meditation or relaxation techniques.

Conclusion

Rectal prolapse is a challenging condition that requires prompt medical attention. Treatment options vary based on severity, with surgery often providing the most effective long-term solution. Early intervention is key to restoring quality of life. It is always advisable to seek medical help from an experienced general surgeon. Timely care and help can ensure an appropriate diagnosis and treatment of your condition. 

At the CK Birla Hospital, we ensure patients get holistic medical support which includes treatment in a compassionate environment. This patient-centric approach not only helps patients heal better but also ensures they are aware of the preventive measures as well. In case you need to consult a general surgeon, reach out to us, or book a direct appointment with gastroenterologist at the CK Birla Hospital. 

FAQs

Can Rectal Prolapse Resolve on its Own?

Rectal prolapse rarely resolves on its own and typically requires medical intervention such as surgery. Early diagnosis and treatment are essential for managing rectal prolapse effectively.

Is Rectal Prolapse Common in Children?

Rectal prolapse is uncommon in children but can occur, especially in those under 4 years old. It’s often associated with underlying conditions like cystic fibrosis or chronic constipation.

Who is at Risk of Developing Rectal Prolapse?

Risk factors include elderly individuals, women who have given birth multiple times, chronic constipation sufferers, and those with connective tissue disorders.

When should I See a Doctor for Rectal Prolapse?

Seek medical advice if you notice symptoms of rectal prolapse, such as a protrusion from the anus, difficulty controlling bowel movements, or persistent rectal discomfort.

What is Vaginal Prolapse: Symptoms and Treatment Options
May 21, 2024|Dr Alka Gupta

What is Vaginal Prolapse: Symptoms and Treatment Options

Vaginal prolapse is a common yet often misunderstood condition that affects many women. It occurs when the structures supporting the vagina weaken, causing the vaginal walls to protrude into or outside of the vaginal opening. This can lead to discomfort, urinary problems, and a range of other symptoms. 

It is essential to comprehend the origins, signs, and available treatments for this ailment to properly manage it.

What is Vaginal Prolapse?

Vaginal prolapse (or vault prolapse) occurs when the top of the vagina descends from its normal position in the body. This weakening is due to pelvic muscle and tissue support deterioration, causing organs to sag or bulge into the vagina. Mild cases may not require surgery, but severe prolapse may necessitate surgical repair to alleviate painful symptoms.

What are the Types of Vaginal Prolapse?

The several types of vaginal prolapse are:

  • Anterior Vaginal Prolapse (cystocele): The front wall of the vagina weakens, causing the bladder to bulge into the vagina. This can lead to urinary symptoms like frequent urination or stress urinary incontinence.
  • Posterior Vaginal Prolapse (rectocele): The back wall of the vagina weakens, allowing the rectum to bulge into the vagina. This can cause difficulty with bowel movements or rectal pressure.
  • Apical Vaginal Prolapse (vault prolapse): Descent of the top of the vagina due to weakened support after a hysterectomy.
  • Uterine Prolapse: Descent of the uterus into the vaginal canal due to weakened pelvic floor support.

You can also read: Common Causes of Frequent Urination in Women

What are the Symptoms of Vaginal Prolapse?

Symptoms of vaginal prolapse may manifest as:

  • Sensations of fullness, heaviness, or discomfort in the pelvic region, which can intensify throughout the day or following activities like standing, lifting, or coughing.
  • Lower back ache.
  • Vaginal bulging.
  • Sensations of something slipping out of the vagina.
  • Urinary leakage (urinary incontinence).
  • Recurrent bladder infections.
  • Difficulty with bowel movements.
  • Challenges during sexual intercourse.
  • Difficulty inserting tampons.

Also read: Bad back Common spine issues that can affect anyone and how to prevent them

What are the Causes of Vaginal Prolapse?

Your vagina is supported within your pelvis by muscles and tissues that can weaken over time, leading to a prolapse where the vagina slips out of place. Common causes of vaginal prolapse include:

  • Childbirth: Vaginal delivery, especially with multiple deliveries or large babies, raises the risk.
  • Menopause: Decline in oestrogen weakens pelvic muscles.
  • Surgery: Hysterectomy increases prolapse risk.
  • Ageing: Natural weakening of support structures.
  • Extreme Physical Activity: Heavy lifting or intense strain can contribute.

What are the Complications of Vaginal Prolapse?

The consequences of vaginal prolapse vary depending on the organs affected and may include:

  • Vaginal sores if the uterus or cervix protrudes.
  • Higher susceptibility to urinary tract infections.
  • Challenges with urination or bowel movements.
  • Difficulty engaging in sexual activity.

How is Vaginal Prolapse Diagnosed?

Diagnosing vaginal prolapse typically involves a pelvic exam, where your doctor may ask you to bear down as if having a bowel movement. Additionally, they might request you tighten and release muscles used to control urine flow to assess pelvic muscle strength. If you experience urination difficulties, urodynamic testing can evaluate bladder function. Specific tests include:

  • Uroflowmetry measures urine stream amount and strength.
  • Cystometrogram gauges bladder fullness triggering urination.
  • Pelvic ultrasound utilizes sound waves for bladder and organ assessment.
  • Pelvic floor MRI uses magnets and radio waves to image pelvic organs.
  • Abdominal and pelvic CT scan provides detailed X-ray images of pelvic structures.

What is the Treatment for Vaginal Prolapse?

Vaginal prolapse treatment options are tailored to the severity of the condition. Healthcare providers may adopt a watchful waiting approach for mild cases. Treatment choices encompass both nonsurgical and surgical interventions, contingent upon various factors, such as:

  • General Health: Existing medical conditions can influence treatment decisions.
  • Age: Age impacts the suitability of different treatments.
  • Prolapse Severity: The extent of prolapse determines the appropriate intervention.
  • Future Plans: Considerations like desire for children or sexual activity affect treatment selection.

Nonsurgical methods are preferred for mild prolapses, like:

  • Exercise: Kegel exercises strengthen pelvic muscles.
  • Vaginal Pessary: A supportive device placed in the vagina assists in prolapse management.

For advanced cases, surgical options are considered, which are:

  • Vaginal Vault Suspension: Attaches the vagina to pelvic ligaments.
  • Sacrocolpopexy: Uses mesh to support and lift the vagina.
  • Colpocleisis: Seals the vagina, eliminating prolapse risk but precluding penetrative sex.

Open dialogue with healthcare providers is crucial for addressing concerns and making informed treatment decisions. 

How can you Prevent Vaginal Prolapse?

While vaginal prolapse cannot always be entirely prevented, adopting healthy lifestyle habits can reduce your risk of developing it. These habits may include:

  1. Engaging in regular exercise, including Kegel exercises.
  2. keeping a healthy weight and eating a well-balanced diet.
  3. Avoiding smoking (since smoking can lead to increased coughing).
  4. Using correct lifting techniques for heavy objects.

Conclusion

Understanding vaginal prolapse is crucial for women’s health. Early diagnosis and appropriate treatment can significantly improve quality of life. Raising awareness and priortising women’s pelvic health is important. It is always advisable to seek medical help from an experienced gynaecologist. Timely care and help can ensure an appropriate diagnosis and treatment of your condition. 

At the CK Birla Hospital, we ensure patients get holistic medical support which includes treatment in a compassionate environment. This patient-centric approach not only helps patients heal better but also ensures they are aware of the preventive measures as well. In case you need to consult a gynaecologist, reach out to us, or book a direct appointment with the best gynaecologist aft the CK Birla Hospital.

FAQs

Can Vaginal Prolapse Occur During Pregnancy?

Vaginal prolapse can occur during pregnancy due to increased pressure on pelvic organs. Hormonal changes and weakened pelvic floor muscles contribute to this condition.

Is Vaginal Prolapse Hereditary?

Vaginal prolapse can have a genetic component, but it’s influenced by multiple factors including childbirth, ageing, and lifestyle. Family history may increase susceptibility but isn’t the sole cause.

Can Vaginal Prolapse be Reversed Without Surgery?

Mild cases of vaginal prolapse may improve with pelvic floor exercises (Kegels), lifestyle changes (like weight loss), and using pessaries. Severe cases often require surgical intervention for complete reversal.

Are there Any Exercises to Avoid with Vaginal Prolapse?

Avoid high-impact exercises like heavy lifting, running, and jumping if you have vaginal prolapse. Instead, focus on low-impact activities such as walking, swimming, or yoga, under medical guidance.

How Long does Recovery take After Vaginal Prolapse Surgery?

Recovery after vaginal prolapse surgery typically takes about 4 to 6 weeks, during which activity levels gradually increase. Follow-up care and restrictions are advised based on individual progress.

 

9 Easy Ways for Desk Warriors to Stay Fit and Healthy
Apr 11, 2024|Ms. Deepali Sharma

9 Easy Ways for Desk Warriors to Stay Fit and Healthy

In today’s fast-paced world, many of us find ourselves chained to our desks for hours on end, often neglecting our health in the process. But fear not, fellow desk warriors! This World Health Day, it’s time to break free from the sedentary lifestyle and embrace a healthier way of living. Let’s dive into 10 simple yet effective ways for desk-bound individuals to incorporate more movement and vitality into their lives.

1. Take the Stairs: Ditch the elevator and opt for the stairs whenever possible. Not only does this get your heart pumping, but it also strengthens your leg muscles and burns calories as advised by our ortho specialist at the CK Birla Hospital, Gurgaon, Dr. Debashish Chanda.  

2. Deskercise Breaks: Take a break from being in one stride on your chair. Get up and move around. Alternatively, incorporate short exercise breaks into your workday. Simple stretches, squats, or lunges can help combat stiffness and improve circulation.

Desk Employees Health

3. Walk and Talk: Instead of sitting during phone calls, take them on the move. Grab your headphones and go for a brisk walk while chatting with colleagues or clients. Added focus and clarity is a bonus takeaway. 

4. Standing Desk: If working from home, consider investing in a standing desk or using a makeshift standing workstation. Alternating between sitting and standing throughout the day can alleviate back pain and boost energy levels.

Desk Employees Health

5. Active Commuting: If feasible, bike or walk to work instead of driving or taking public transport. Not only does this reduce carbon emissions, but it also provides a refreshing start to your day. Taking a long commute or being stuck in traffic for long periods everyday often leads to musculoskeletal problems. 

6. Lunchtime Walks: Make it a habit to go for a walk during your lunch break. Invite coworkers to join you and explore nearby parks or scenic routes. These not only work for your health but also foster a stress-free space for teams to bond. 

Employees Health

7. Fitness Apps: Get help wherever you can. Explore fitness apps that offer quick and convenient workouts tailored to your schedule to ensure you hit the coveted 10,000 step mark consistently. 

8. Office Challenges: Organize friendly fitness challenges within your workplace. Whether it’s a step count competition or a plank challenge, gamifying fitness can foster camaraderie and motivation. We are kickstarting the #StepChallenge at the CK Birla Hospital, where we are encouraging our people and their communities to start a healthy habit in a motivated and guided space.

9. Hydration Reminder: Stay hydrated throughout the day by keeping a water bottle at your desk. Not only does adequate hydration support overall health, but it also boosts energy levels and mental clarity. But cut down on caffeine, as it is known to contribute to weight gain & insulin resistance that leads to a host of lifestyle diseases. 

TAKEAWAY

This World Health Day, let’s rewrite the narrative of sedentary desk jobs and embrace a more active and balanced lifestyle. With small, actionable steps and the support of initiatives like the #StepChallenge, we can pave the way towards a healthier future. Remember, every step counts – so lace up your shoes, step out of your comfort zone, and embark on a journey of vitality and wellness.

Gaucher Disease: Symptoms, Causes, Diagnosis, and Treatment
Apr 7, 2024|Dr. Sonali Bali

Gaucher Disease: Symptoms, Causes, Diagnosis, and Treatment

Gaucher Disease, a rare genetic disorder, affects individuals worldwide, impacting their quality of life and overall health. This disorder stems from a deficiency in an enzyme crucial for breaking down certain fats, leading to their accumulation in various organs and tissues.

In this blog, we delve into the intricacies of Gaucher Disease, exploring its symptoms, diagnosis, treatment options, and the latest advancements in research and management.

What is Gaucher Disease?

Gaucher disease, an uncommon inherited metabolic disorder, manifests diverse symptoms and physical manifestations that differ from individual to individual, contingent upon the specific type of the condition. It can affect various organs including the spleen, liver, bones, heart, lungs, and brain. While some types of Gaucher disease exhibit symptoms during childhood, others may not surface until adulthood.

What are the Types of Gaucher Disease?

Gaucher disease, also known as Gaucher’s disease, manifests in three distinct types, each with its own set of symptoms affecting organs and bones.

Gaucher Disease Type 1

  • It impacts the spleen, liver, blood, and bones without affecting the brain or spinal cord.
  • Symptoms range from mild to severe, including bruising, fatigue, and abdominal pain, with onset possible at any age.

Gaucher Disease Type 2

  • This is a rare variant, emerging in infants below six months, causing spleen enlargement, movement difficulties, and severe brain damage.
  • Sadly, there’s no treatment available for Gaucher disease type 2, typically leading to the infant’s demise within two to three years.

Gaucher Disease Type 3

  • It presents before age 10, resulting in bone, organ, and neurological abnormalities.
  • Although incurable, treatments can extend the lifespan of individuals with Gaucher disease type 3, enabling some to live into their 20s or 30s.

You Can Also Read: Understanding Obsessive-Compulsive Disorders (OCD)

What are the Symptoms of Gaucher Disease?

Gaucher disease symptoms are variable, ranging from mild to severe. While some individuals may be asymptomatic, others face serious health complications, even death.

Blood and Organ Complications

  • Anaemia: Destruction of red blood cells due to lipid buildup.
  • Enlarged organs: Spleen and liver enlargement, leading to abdominal tenderness.
  • Bruising, bleeding, and clotting Issues: Low platelet count causes easy bruising and clotting problems.
  • Fatigue: Resulting from anaemia.
  • Lung problems: Difficulty breathing due to lipid accumulation.

Bone Issues

  • Pain and arthritis: Decreased blood flow leads to bone and joint pain.
  • Osteonecrosis: Lack of oxygen causes bone tissue death.
  • Fragile bones: Osteoporosis makes bones prone to fractures.

Neurological Complications (Types 2 and 3)

  • Feeding and developmental challenges (Type 2).
  • Cognitive issues.
  • Eye movement problems.
  • Motor skills and coordination challenges.
  • Seizures and muscle spasms.

What are the Causes of Gaucher Disease?

Gaucher disease, an inherited metabolic disorder, stems from mutations in the GBA gene, impairing the production of glucocerebrosidase (GCase) enzyme.

 This deficiency leads to the accumulation of fatty chemicals (Gaucher cells) in organs, bone marrow, and brain, causing various issues like organ dysfunction, blood cell destruction, and bone weakening. GCase, crucial for breaking down fats, is insufficient in individuals with Gaucher disease, exacerbating symptoms and complications.

What are the Complications of Gaucher Disease?

Complications of Gaucher disease include:

  • Enlargement of the spleen (splenomegaly) and liver (hepatomegaly), causes discomfort and increased infection risk.
  • Anaemia and thrombocytopenia due to bone marrow lipid accumulation, leading to fatigue and bleeding tendencies.
  • Bone abnormalities result in pain, fractures, and weakened bones.
  • Pulmonary involvement may lead to respiratory symptoms.
  • Neurological complications like seizures and cognitive impairment can occur in severe cases.
  • Growth retardation may affect children.
  • Increased risk of certain cancers, particularly blood-related ones.
  • Treatment involves enzyme replacement therapy (ERT) or substrate reduction therapy (SRT), along with supportive care and regular monitoring for symptom management.

How is Gaucher Disease diagnosed?

Healthcare providers diagnose Gaucher’s disease through symptom evaluation and blood or DNA tests.

Blood tests measure enzyme levels, while DNA tests detect gene mutations associated with the disease. DNA tests, using saliva or blood samples, identify carriers who may pass the disease to offspring. Carriers, usually asymptomatic, can seek guidance from genetic counsellors when planning to have children to understand potential risks and options.

You Can Also Read: Basic Facts About Aphasia – What You Need to Know

What is the Treatment for Gaucher Disease?

Depending on the kind, Gaucher disease has different treatments:

  • Gaucher disease type 1 is manageable with regular therapy, focusing on enzyme replacement or reducing fatty substance accumulation.
  • Unfortunately, types 2 and 3 lack treatment for neurological damage.

For Gaucher disease type 1, treatment options include:

Enzyme Replacement Therapy (ERT)

  • Regular intravenous infusions (every two weeks) are essential.
  • Infusions can be administered at a centre or at home.
  • ERT breaks down fatty chemicals, preventing buildup in organs and bones.

Substrate Reduction Therapy (SRT)

  • Oral medication reduces fatty chemical accumulation.
  • Consistent intake is crucial for preventing bodily harm.

Research advancements, including genetic engineering and stem cell technologies, offer promising future therapies.

Conclusion

Gaucher Disease poses significant challenges, but advancements in research, treatments, and support networks offer hope. With continued awareness and dedication, we can strive towards better management and ultimately, a cure. It is always advisable to seek medical help from an experienced neurologist. Timely care and help can ensure an appropriate diagnosis and treatment of your condition. 

At the CK Birla Hospital, we ensure patients get holistic medical support which includes treatment in a compassionate environment. This patient-centric approach not only helps patients heal better but also ensures they are aware of the preventive measures as well. In case you need to consult a neurologist, reach out to us, or book a direct appointment at the CK Birla Hospital.

FAQs

Is Gaucher Disease Curable?

Gaucher disease is not curable, but treatments such as enzyme replacement therapy can manage symptoms and improve the quality of life for patients affected by this rare genetic disorder.

Can Gaucher Disease be Diagnosed Before Birth?

Gaucher disease can be diagnosed before birth through prenatal testing, such as chorionic villus sampling or amniocentesis, which can detect genetic mutations associated with the disorder.

Can Gaucher’s Disease Affect Adults?

Gaucher disease can affect adults. While it often presents in childhood, symptoms can manifest at any age, with varying severity and progression throughout an individual’s life.

What are the Chances of Passing Gaucher Disease to Offspring if One Parent is a Carrier?

If one parent is a carrier of Gaucher disease, each child has a 50% chance of inheriting the mutated gene, which may lead to the development of the disorder.

Are There Any Dietary Restrictions for Individuals With Gaucher Disease?

There are no specific dietary restrictions for individuals with Gaucher disease. However, maintaining a balanced diet and staying hydrated can support overall health and management of symptoms.

Can Gaucher’s Disease Lead to Other Health Problems?

Yes, Gaucher disease can lead to various health problems, including bone abnormalities, anaemia, enlarged liver and spleen, and increased risk of certain cancers, among other complications.

Is Gaucher Disease Life-Threatening?

Gaucher disease can be life-threatening if untreated, particularly in severe cases with complications like organ damage or blood disorders. However, with proper management, life expectancy can be improved.

Fabry Disease: Symptoms, Causes, Diagnosis, and Treatment
Apr 6, 2024|Dr. Sonali Bali

Fabry Disease: Symptoms, Causes, Diagnosis, and Treatment

Fabry Disease is a rare genetic disorder that affects approximately 1 in 40,000 to 60,000 people worldwide. This condition, caused by mutations in the GLA gene, leads to the accumulation of a particular type of fat within the body’s cells.

Despite its low prevalence, Fabry Disease can have profound effects on various organs, making early detection and management crucial for patients’ well-being. Symptoms often manifest in childhood or adolescence and can include skin lesions, gastrointestinal issues, kidney dysfunction, and cardiovascular complications. Understanding the intricacies of Fabry Disease is vital for improving diagnosis, treatment, and ultimately, the quality of life for affected individuals.

What is Fabry Disease?

Fabry disease, a rare genetic condition, results from insufficient production of the enzyme alpha-galactosidase A (alpha-GAL). This enzyme breaks down sphingolipids, preventing their accumulation in blood vessels and tissues. 

It’s a type of lysosomal storage disorder, that impacts the heart, kidneys, brain, nervous system, and skin. Also known as Anderson-Fabry disease or alpha-galactosidase-A deficiency, it leads to harmful sphingolipid buildup without functional alpha-GAL enzymes.

What are the Types of Fabry Disease?

Fabry disease manifests in various forms based on symptom onset, which are:

  • Classic Type:

    Symptoms emerge in childhood or teenage years. Notably, a burning sensation in hands and feet may appear as early as age 2, worsening gradually.

  • Late-Onset/Atypical Type:

    Symptoms typically arise after 30s. Manifestations may include kidney failure or heart disease, serving as initial indicators of the condition.

What are the Symptoms of Fabry Disease?

Fabry Disease (FD) presents a variety of symptoms, posing challenges in diagnosis. Manifestations differ among genders and between type 1 and type 2 FD.

Symptoms of Type 1 FD

  • Early signs include burning or tingling pain in extremities.
  • Males may experience these sensations as early as 2 to 8 years old, while females typically develop them later.
  • “Fabry crises” entail episodes of intense pain lasting from minutes to days.
  • Males predominantly suffer from a lack of sweat production.
  • A characteristic skin rash, angiokeratoma, occurs between the belly button and knees.
  • Stomach issues like cramps, gas, and diarrhoea are common.
  • Abnormal corneas might manifest, though without affecting vision.
  • General symptoms encompass tiredness, dizziness, headache, nausea, and heat intolerance.
  • Type 1 FD progression brings about serious complications like kidney and heart diseases by the 30s or 40s.

Symptoms of Type 2 FD 

Similar complications arise but typically later in life, between the 30s and 60s.

Some serious FD symptoms are:

  • Progressive decline in kidney function leads to failure.
  • Cardiac manifestations include enlargement, angina, irregular heartbeat, and eventual heart failure.
  • Stroke risk increases, particularly in women with FD in their 40s.
  • Stomach issues affect a significant portion of women with FD.
  • Other indicators comprise hearing loss, ringing in the ears, lung disease, and exercise intolerance. Fever might also occur.

You Can Also Read: Understanding Spinal Muscular Atrophy: Causes, Symptoms, and Treatment Options

What are the Causes of Fabry Disease?

Inheritance of Fabry Disease (FD)

  • FD is caused by a specific gene mutation inherited from parents.
  • The defective gene is located on the X chromosome, determining sex.
  • Males inherit one X and one Y chromosome, while females inherit two X chromosomes.
  • A man with the FD mutation passes it to daughters, not sons (the Y chromosome lacks the mutation).
  • A woman with one mutated X chromosome has a 50% chance of passing FD to sons and daughters.
  • Daughters may have milder symptoms due to X chromosome inactivation.

Genetic Mutations and FD Development

  • FD results from up to 370 mutations in the GLA gene.
  • These mutations often run in families.
  • The GLA gene regulates alpha-galactosidase A production, essential for breaking down GL-3.
  • Damage to the GLA gene impairs enzyme function, leading to GL-3 accumulation.
  • Accumulation damages blood vessel walls in the skin, nervous system, heart, and kidneys.
  • Symptom severity varies based on mutation severity.

What are the Complications of Fabry Disease?

Accumulation of the fatty substance over time can harm blood vessels, potentially resulting in severe health complications such as:

  1. Cardiac issues like arrhythmia, heart attacks, enlarged heart, and heart failure.
  2. Renal failure.
  3. Peripheral neuropathy (nerve damage).
  4. Strokes, including transient ischemic attacks (TIA or mini-strokes).

How is Fabry Disease Diagnosed?

Tests to diagnose Fabry disease that your healthcare provider may order include:

  1. Enzyme Assay: This test evaluates the activity of the alpha-GAL enzyme in your blood. A measurement of 1% or lower indicates the presence of the disease. However, it is important to note that this test is primarily reliable for men and individuals assigned male at birth (AMAB), rather than women and those assigned female at birth (AFAB).
  2. Genetic Testing: Given that individuals with Fabry disease, particularly women and those AFAB, may have normal levels of alpha-GAL enzyme activity, healthcare providers often resort to genetic testing (DNA sequencing) to pinpoint mutations in the GLA gene.
  3. Newborn Screenings: Newborns sometimes undergo screenings for Fabry disease and other lysosomal storage disorders as part of routine procedures.

You Can Also Read: Basic Facts About Aphasia – What You Need to Know

What is the Treatment for Fabry Disease?

Fabry disease, unfortunately, lacks a cure, but certain medications can alleviate pain and stomach issues associated with it. However, two treatments show promise in slowing down the accumulation of fatty substances, aiming to avert severe complications like heart and kidney problems:

Enzyme Replacement Therapy (ERT)

  • Intravenous infusions of lab-made enzymes (agalsidase beta, pegunigalsidase alfa) mimic the missing alpha-GAL enzyme.
  • These infusions, typically biweekly, prevent the buildup of fatty substances.
  • Pre-treatment with antihistamines and other medications helps prevent allergic reactions.
  • Infusions can be administered at infusion centres or at home.

Oral Chaperone Therapy

  • Migalastat pills every other day repair faulty alpha-GAL enzymes, aiding in the breakdown of fatty substances.
  • The particular genetic mutation in the GLA gene determines eligibility.

Ongoing research explores additional therapies utilising genetic engineering and stem cell technologies.

Conclusion

Fabry disease presents complex challenges, yet advancements in diagnosis, treatment, and support offer hope. Increased awareness and research are crucial for improving patient outcomes and quality of life. It is always advisable to seek medical help from an experienced neurologist. Timely care and help can ensure an appropriate diagnosis and treatment of your condition. 

At the CK Birla Hospital, we ensure patients get holistic medical support which includes treatment in a compassionate environment. This patient-centric approach not only helps patients heal better but also ensures they are aware of the preventive measures as well. In case you need to consult a neurologist, reach out to us, or book a direct appointment at the CK Birla Hospital.

FAQs

Can Fabry Disease Skip Generations?

Fabry disease can appear to skip generations due to the inheritance pattern. It is an X-linked genetic disorder, so males typically show symptoms while females can be carriers.

Can Females have symptoms of Fabry disease?

Females can have symptoms of Fabry disease if they inherit the mutated gene from both parents or if they inherit one mutated gene and have skewed X-chromosome inactivation.

Is Fabry Disease Fatal?

Fabry disease can lead to serious complications affecting multiple organs and may reduce life expectancy, but with appropriate management, including enzyme replacement therapy, life expectancy can be improved.

Can Fabry Disease be Prevented?

Fabry disease cannot be prevented as it is a genetic disorder caused by mutations in the GLA gene. However, genetic counselling and testing can help in family planning and management.

Are There Any Dietary Restrictions for Individuals With Fabry Disease?

There are generally no specific dietary restrictions for individuals with Fabry disease, but maintaining a healthy diet low in saturated fats and sodium may help manage associated complications like kidney disease.

Can Fabry Disease Lead to Complications During Pregnancy?

Fabry disease can potentially lead to complications during pregnancy, such as worsening of symptoms due to increased physiological demands, but each case varies and requires careful management by healthcare professionals.

पार्किंसन रोग(पीडी): कारण, लक्षण, निदान और उपचार
Apr 5, 2024|Dr Manish Kumar

पार्किंसन रोग(पीडी): कारण, लक्षण, निदान और उपचार

पार्किंसन रोग एक तंत्रिका संबंधी विकार (न्यूरोलॉजिकल डिसऑर्डर) है जो मुख्य रूप से तंत्रिका तंत्र और तंत्रिकाओं द्वारा नियंत्रित शरीर के हिस्सों को प्रभावित करता है। यह डोपामाइन-उत्पादक मस्तिष्क कोशिकाओं के नुकसान के कारण होता है, जिससे कंपकंपी, कठोरता, गति की धीमी गति और असंतुलन एवं समन्वय (impaired balance and coordination) जैसे लक्षण होते हैं।

जैसे-जैसे यह बीमारी बढ़ती है, गैर-मोटर लक्षण जैसे कॉग्निटिव इम्पेयरमेंट, डिप्रेशन और नींद की गड़बड़ी भी पैदा कर सकती है। पार्किंसन रोग का सटीक कारण पूरी तरह से समझा नहीं गया है, लेकिन माना जाता है कि आनुवंशिक और पर्यावरणीय दोनों कारक इसमें भूमिका निभाते हैं। हालाँकि, पार्किंसन रोग का वर्तमान में कोई इलाज नहीं है, उपचार का उद्देश्य दवा, चिकित्सा और कभी-कभी सर्जरी के माध्यम से लक्षणों को प्रबंधित करना और जीवन की गुणवत्ता में सुधार करना है।

ये भी पढ़े: नसों में दर्द का कारण और उपचार | Nerve Pain in Hindi

कारण

पार्किंसन रोग बहुकारक कारणों वाला एक जटिल विकार है। शोध से पता चलता है कि आनुवंशिक प्रवृत्ति और पर्यावरणीय कारकों का संयोजन इसके विकास में योगदान देता है। आनुवंशिक कारक एक भूमिका निभाते हैं, क्योंकि एसएनसीए, एलआरआरके2 और पार्किन जैसे कुछ जीनों में उत्परिवर्तन को पार्किंसन के पारिवारिक मामलों से जोड़ा गया है। हालाँकि, अधिकांश मामले छिटपुट होते हैं जिनमें कोई स्पष्ट आनुवंशिक वंशानुक्रम पैटर्न नहीं होता है।

पर्यावरणीय कारक भी महत्वपूर्ण भूमिका निभाते हैं। कीटनाशकों, शाकनाशी और औद्योगिक रसायनों जैसे कुछ विषाक्त पदार्थों के संपर्क में आने से पार्किंसन रोग विकसित होने का खतरा बढ़ जाता है। इसके अलावा, सिर और मस्तिष्क पर चोट इस रोग की शुरुआत में योगदान कर सकते हैं।

इन सबके अलावा, मस्तिष्क में डोपामाइन-उत्पादक न्यूरॉन्स का अध: पतन, विशेष रूप से सबस्टैंटिया नाइग्रा में, पार्किंसन रोग की एक पहचान है। डोपामाइन की हानि से स्थिति के विशिष्ट मोटर लक्षण उत्पन्न होते हैं। कुल मिलाकर, पार्किंसन रोग आनुवंशिक संवेदनशीलता, पर्यावरणीय जोखिम और न्यूरोनल डिसफंक्शन की जटिल परस्पर क्रिया से उत्पन्न होता है।

और अधिक पढ़े: मिर्गी क्या है – कारण, लक्षण और इलाज (Epilepsy, Seizure in Hindi)

लक्षण

पार्किंसन रोग के लक्षण धीरे-धीरे प्रकट होते हैं और व्यक्तियों में गंभीरता अलग-अलग होती है। वे मुख्य रूप से गति को प्रभावित करते हैं, लेकिन इसमें गैर-मोटर लक्षण भी शामिल हो सकते हैं:

मोटर लक्षण

  • पार्किंसन रोग के मोटर लक्षण का मतलब है गति-संबंधी लक्षण से जिसमें निम्नलिखित शामिल हैं:
  • झटके: अनैच्छिक कंपकंपी, आमतौर पर हाथों या उंगलियों से शुरू होती है, यहां तक ​​कि आराम करते समय भी।
  • ब्रैडीकिनेसिया: गति की धीमी गति, रोजमर्रा के कार्यों को चुनौतीपूर्ण और समय लेने वाला बनाना।
  • कठोरता: मांसपेशियों की कठोरता और अनम्यता, अक्सर जोड़ों में दर्द और सीमित गतिशीलता का कारण बनती है।
  • आसन संबंधी अस्थिरता: बिगड़ा हुआ संतुलन और समन्वय, जिससे गिरने का खतरा बढ़ जाता है, खासकर बाद के चरणों में।

गैर-मोटर लक्षण

  • संज्ञानात्मक परिवर्तन: स्मृति, एकाग्रता और कार्यकारी कार्य में कठिनाई।
  • मनोदशा संबंधी विकार: अवसाद, चिंता और उदासीनता आम हैं।
  • नींद में खलल: अनिद्रा, बेचैन पैर सिंड्रोम, और रैपिड आई मूवमेंट (आरईएम) नींद व्यवहार विकार।
  • स्वायत्त शिथिलता: कब्ज, मूत्र संबंधी समस्याएं, निम्न रक्तचाप और पसीने की असामान्यताएं।
  • संवेदी लक्षण: गंध की अनुभूति में कमी (एनोस्मिया), दृष्टि संबंधी समस्याएं और दर्द।

समय के साथ लक्षण बिगड़ सकते हैं, जिससे दैनिक जीवन और जीवन की गुणवत्ता प्रभावित हो सकती है। इसके अलावा, मरीज़ों को लक्षणों में उतार-चढ़ाव का अनुभव हो सकता है।

निदान

पार्किंसन रोग के निदान में चिकित्सा इतिहास, शारीरिक परीक्षण और लक्षणों का व्यापक मूल्यांकन शामिल है। कोई निश्चित परीक्षण नहीं है, लेकिन चिकित्सक अन्य स्थितियों का पता लगाने के लिए एमआरआई या डैटस्कैन जैसे इमेजिंग परीक्षणों का उपयोग कर सकते हैं। निदान विशिष्ट मोटर लक्षणों जैसे कंपकंपी, ब्रैडीकिनेसिया, कठोरता और आसनीय अस्थिरता की उपस्थिति पर निर्भर करता है।

न्यूरोलॉजिकल मूल्यांकन में एकीकृत पार्किंसन रोग रेटिंग स्केल शामिल हो सकता है। इसके आलावा, डोपामिनर्जिक दवा की प्रतिक्रिया से निदान की पुष्टि करने में मदद मिल सकती है। सटीक निदान और उचित प्रबंधन के लिए न्यूरोलॉजिस्ट, मूवमेंट डिसऑर्डर विशेषज्ञों और अन्य डॉक्टर को शामिल करने वाला एक बहु-विषयक दृष्टिकोण आवश्यक है।

और अधिक पढ़े: माइग्रेन: कारण, लक्षण और उपचार और प्रबंधन

उपचार 

पार्किंसन रोग के उपचार का उद्देश्य लक्षणों को कम करना, जीवन की गुणवत्ता में सुधार करना और रोग की प्रगति को धीमा करना है। इसमें आमतौर पर प्रत्येक मरीज़ की ज़रूरतों के अनुरूप दवा, चिकित्सा और जीवनशैली समायोजन का संयोजन शामिल होता है।

दवा

लेवोडोपा: मस्तिष्क में डोपामाइन में परिवर्तित हो जाता है, जिससे मोटर संबंधी लक्षणों से राहत मिलती है। प्रभावशीलता बढ़ाने और दुष्प्रभावों को कम करने के लिए इसे अक्सर कार्बिडोपा के साथ मिलाया जाता है।

  • डोपामाइन एगोनिस्ट: मस्तिष्क में डोपामाइन के प्रभाव की नकल करते हुए, मोटर लक्षणों को कम करने में मदद करते हैं। उदाहरणों में प्रामिपेक्सोल और रोपिनिरोले शामिल हैं।
  • एमएओ-बी अवरोधक: डोपामाइन के टूटने को रोकते हैं, इसके प्रभाव को लम्बा खींचते हैं। सेलेगिलिन और रासगिलीन इसके सामान्य उदाहरण हैं।
  • COMT अवरोधक: लेवोडोपा के टूटने को रोककर इसके प्रभाव को बढ़ाते हैं। एंटाकैपोन आमतौर पर इस्तेमाल किया जाने वाला COMT अवरोधक है।
  • एंटीकोलिनर्जिक्स: कंपकंपी और मांसपेशियों की कठोरता को नियंत्रित करने में मदद करते हैं, हालांकि उनके संज्ञानात्मक हानि जैसे दुष्प्रभाव हो सकते हैं।
  • अमांताडाइन: डिस्केनेसिया (अनैच्छिक गतिविधियां) को कम कर सकता है और मोटर लक्षणों में सुधार कर सकता है।

गहन मस्तिष्क उत्तेजना (डीबीएस)

असामान्य तंत्रिका गतिविधि को नियंत्रित करने के लिए विशिष्ट मस्तिष्क क्षेत्रों में इलेक्ट्रोड के आरोपण से जुड़ी सर्जिकल प्रक्रिया। उन्नत पार्किंसन रोग में मोटर के उतार-चढ़ाव, कंपकंपी और डिस्केनेसिया के प्रबंधन के लिए प्रभावी।

शारीरिक चिकित्सा

गतिशीलता, संतुलन और लचीलेपन को बेहतर बनाने में मदद करता है। तकनीकों में चाल प्रशिक्षण, गति-सीमा वाले व्यायाम और मजबूत बनाने वाले व्यायाम शामिल हो सकते हैं।

व्यावसायिक चिकित्सा

स्वतंत्रता और जीवन की गुणवत्ता में सुधार के लिए दैनिक गतिविधियों को अपनाने पर ध्यान केंद्रित करता है। बढ़िया मोटर कौशल, लिखावट और स्व-देखभाल कार्यों जैसे मुद्दों को संबोधित करता है।

वाक उपचार

पार्किंसन रोग में बोलने और निगलने में कठिनाई आम है। इसलिए तकनीकों में बोलने और निगलने में शामिल मांसपेशियों को मजबूत करने के लिए व्यायाम शामिल हैं।

जीवनशैली में संशोधन

  • एरोबिक गतिविधि और शक्ति प्रशिक्षण सहित नियमित व्यायाम, गतिशीलता और समग्र स्वास्थ्य को बेहतर बनाने में मदद कर सकता है।
  • फलों, सब्जियों और साबुत अनाज से भरपूर संतुलित आहार मस्तिष्क के स्वास्थ्य और दवा की प्रभावशीलता में सहायता कर सकता है।
  • पर्याप्त नींद और तनाव प्रबंधन तकनीकें गैर-मोटर लक्षणों को कम करने और स्वास्थ्य में सुधार करने में मदद कर सकती हैं।

इस बीमारी की प्रगति और व्यक्तिगत प्रतिक्रिया के आधार पर उपचार योजनाओं की नियमित रूप से समीक्षा और समायोजन किया जाना चाहिए। पार्किंसन रोग के श्रेष्ठ प्रबंधन के लिए विशेषज्ञ और मरीज़ के बीच घनिष्ठ सहयोग आवश्यक है।

विटामिन बी12 की कमी के कारण, लक्षण और उपचार
Apr 4, 2024|Ms. Deepali Sharma

विटामिन बी12 की कमी के कारण, लक्षण और उपचार

विटामिन बी12 को कोबालामिन भी कहा जाता है। यह एक महत्वपूर्ण पानी में घुलनशील विटामिन है जो शरीर में कई महत्वपूर्ण भूमिका निभाता है। यह निम्न के लिए आवश्यक है:

  • लाल रक्त कोशिकाओं का निर्माण: बोन मैरो (अस्थि मज्जा) में लाल रक्त कोशिकाओं के उत्पादन के लिए विटामिन बी12 आवश्यक है। बी12 की कमी से एक प्रकार का एनीमिया हो सकता है जिसे मेगालोब्लास्टिक एनीमिया कहा जाता है, जिसमें बड़ी, अविकसित लाल रक्त कोशिकाएं होती हैं।
  • डीएनए संश्लेषण: यह कोशिकाओं में आनुवंशिक मटेरियल डीएनए के संश्लेषण में शामिल है। यह कोशिका विभाजन और वृद्धि के लिए महत्वपूर्ण है।
  • तंत्रिका तंत्र कार्य: विटामिन बी12 तंत्रिका तंत्र के रखरखाव में भूमिका निभाता है, जिसमें माइलिन का निर्माण भी शामिल है, एक वसायुक्त पदार्थ जो तंत्रिका तंतुओं को घेरता है और उन्हें सुरक्षित रखता है।
  • चयापचय: ​​बी12 वसा, प्रोटीन और कार्बोहाइड्रेट के चयापचय में शामिल होता है। यह भोजन को ऊर्जा में बदलने में मदद करता है।
  • न्यूरोट्रांसमीटर का संश्लेषण: यह सेरोटोनिन और डोपामाइन सहित कुछ न्यूरोट्रांसमीटर के संश्लेषण में भूमिका निभाता है, जो मूड विनियमन और न्यूरोलॉजिकल फंक्शन के लिए महत्वपूर्ण हैं।

विटामिन बी12 प्राकृतिक रूप से मांस, मछली, पोल्ट्री, अंडे और डेयरी उत्पादों जैसे पशु उत्पादों में पाया जाता है। इसे गरिष्ठ खाद्य पदार्थों और पूरकों के माध्यम से भी प्राप्त किया जा सकता है। हालाँकि, यह ध्यान रखना महत्वपूर्ण है कि बी12 प्राकृतिक रूप से पौधों के खाद्य पदार्थों में मौजूद नहीं है, इसलिए शाकाहारियों को यह सुनिश्चित करने की आवश्यकता हो सकती है कि उन्हें गरिष्ठ खाद्य पदार्थों या पूरक के माध्यम से पर्याप्त मात्रा में सेवन मिले।

इसके अलावा, कुछ व्यक्तियों को बी12 को अवशोषित करने में कठिनाई हो सकती है, जैसे कि घातक एनीमिया या कुछ गैस्ट्रोइंटेस्टाइनल विकारों वाले लोगों को, और बी12 इंजेक्शन या मौखिक पूरक की उच्च खुराक की आवश्यकता हो सकती है।

ये भी पढ़े: Neutrophils in Hindi (White Blood Cell Kaise Badhaye) 

कारण

विटामिन बी12 की कमी विभिन्न कारकों से उत्पन्न हो सकती है, मुख्य रूप से अपर्याप्त सेवन, बिगड़ा हुआ अवशोषण (impaired absorption), या बढ़ी हुई आवश्यकता से संबंधित है। बी12 से भरपूर खाद्य पदार्थों की अपर्याप्त खपत, विशेष रूप से शाकाहारी और शाकाहारियों के बीच जो अपने आहार से पशु उत्पादों को बाहर करते हैं, समय के साथ इसकी कमी हो सकती है।

साथ ही, गैस्ट्रोइंटेस्टाइनल मार्ग को प्रभावित करने वाली स्थितियाँ, जैसे कि घातक रक्ताल्पता, सीलिएक रोग, क्रोहन रोग, या पेट या आंतों के कुछ हिस्सों को शल्य चिकित्सा द्वारा हटाना, भोजन से बी12 को अवशोषित करने की शरीर की क्षमता को खराब कर सकता है। कुछ दवाएं, जैसे प्रोटॉन पंप अवरोधक और मेटफॉर्मिन, भी बी12 अवशोषण में हस्तक्षेप कर सकती हैं।

उम्र बढ़ने से पेट में एसिड और आंतरिक कारक का उत्पादन कम हो सकता है, जो बी12 अवशोषण के लिए आवश्यक है, जिससे वृद्ध वयस्कों में इसकी कमी का खतरा बढ़ जाता है। इसके अलावा, ऐसी स्थितियाँ जो बी12 के उपयोग या मांग को बढ़ाती हैं, जैसे गर्भावस्था, स्तनपान, या कुछ चिकित्सा उपचार, कमी में योगदान कर सकते हैं। कमी से संबंधित जटिलताओं को रोकने और प्रबंधित करने के लिए बी12 स्तरों की नियमित निगरानी और उचित पूरकता या आहार समायोजन आवश्यक हैं।

और अधिक पढ़े: हीमोग्लोबिन क्या है – कम होने का कारण, लक्षण और उपचार (Hemoglobin in Hindi)

लक्षण

विटामिन बी12 की कमी के कई लक्षण हो सकते हैं जो शरीर में विभिन्न प्रणालियों को प्रभावित करते हैं, थकान और कमजोरी से लेकर न्यूरोलॉजिकल और पाचन समस्याओं तक। इसके सामान्य लक्षणों में निम्न शामिल हैं:

  • लाल रक्त कोशिका उत्पादन में कमी के कारण थकान और कमजोरी, जिससे एनीमिया होता है।
  • न्यूरोलॉजिकल लक्षण जैसे हाथ और पैरों में झुनझुनी या सुन्नता होता है।
  • चलने में कठिनाई, याददाश्त संबंधी समस्याएं और मूड में बदलाव जैसे अवसाद या चिड़चिड़ापन आदि।
  • ग्लोसिटिस, जीभ की सूजन और मुंह के छाले आदि।
  • दस्त या कब्ज, भूख न लगना, वजन कम होना और पेट दर्द सहित पाचन संबंधी समस्याएं।
  • गंभीर मामलों में पेरिफेरल न्यूरोपैथी हो सकती है, जिसमें तंत्रिका क्षति और चरम सीमाओं में संवेदना की हानि होती है।
  • उन्नत चरणों में, रीढ़ की हड्डी को अपरिवर्तनीय क्षति हो सकती है, जिसके परिणामस्वरूप चलने में कठिनाई हो सकती है।

दीर्घकालिक जटिलताओं को रोकने के लिए शीघ्र पता लगाना और उपचार आवश्यक है। इन लक्षणों का अनुभव होने पर स्वास्थ्य देखभाल पेशेवर से परामर्श की सलाह दी जाती है, खासकर आहार प्रतिबंध या गैस्ट्रोइंटेस्टाइनल स्थितियों जैसे जोखिम कारकों के साथ।

ये भी पढ़े: लो बीपी (लो ब्लड प्रेशर) : लक्षण, कारण और उपचार

निदान

विटामिन बी12 की कमी के निदान में आमतौर पर नैदानिक ​​मूल्यांकन और प्रयोगशाला परीक्षणों का संयोजन शामिल होता है। विशेषज्ञ डॉक्टर थकान, तंत्रिका संबंधी समस्याएं या ग्लोसिटिस जैसे लक्षणों का आकलन करने के लिए शारीरिक परीक्षण कर सकते हैं। रक्त में विटामिन बी12 की सांद्रता को मापने के लिए सीरम बी12 स्तर सहित रक्त परीक्षण किया जा सकता है।

इसके अलावा, मिथाइलमेलोनिक एसिड (एमएमए) और होमोसिस्टीन स्तर जैसे मार्करों के परीक्षण कमी की पुष्टि करने में मदद कर सकते हैं। कुछ मामलों में, जटिलताओं का आकलन करने के लिए बोन मैरो एस्पिरेशन या इमेजिंग अध्ययन जैसी आगे की जांच आवश्यक हो सकती है। सटीक निदान और उचित प्रबंधन के लिए एक विशेषज्ञ डॉक्टर द्वारा व्यापक मूल्यांकन महत्वपूर्ण है।

और अधिक पढ़े: प्रतिरोधक क्षमता(इम्यूनिटी) बढ़ाने के लिए क्या खाएं?

उपचार

विटामिन बी12 की कमी के उपचार में आमतौर पर शरीर में बी12 के स्तर को बढ़ाने के लिए पूरक आहार शामिल होता है। कमी की गंभीरता और अंतर्निहित कारण के आधार पर, उपचार के विकल्प भिन्न हो सकते हैं:

  • मौखिक पूरक: बी12 की कमी का इलाज करने का सबसे आम और प्रभावी तरीका सायनोकोबालामिन या मिथाइलकोबालामिन गोलियों के साथ मौखिक पूरक है। ये सप्लीमेंट ओवर-द-काउंटर उपलब्ध हैं या विशेषज्ञ द्वारा निर्धारित किए जा सकते हैं।
  • इंट्रामस्क्युलर इंजेक्शन: गंभीर मामलों में या जब अवशोषण में कमी हो, तो बी12 इंजेक्शन आवश्यक हो सकते हैं। ये इंजेक्शन सीधे मांसपेशियों में बी12 की उच्च खुराक पहुंचाते हैं, जिससे बी12 भंडार का तेजी से अवशोषण और पुनःपूर्ति सुनिश्चित होती है।
  • आहार परिवर्तन: मांस, मछली, मुर्गी पालन, अंडे और डेयरी उत्पादों जैसे बी12 से भरपूर खाद्य पदार्थों का सेवन बढ़ाने से शरीर में बी12 के पर्याप्त स्तर को बनाए रखने में मदद मिल सकती है। शाकाहारियों के लिए, गरिष्ठ खाद्य पदार्थ या बी12 पूरक आवश्यक हैं।
  • अंतर्निहित स्थितियों को संबोधित करना: बी12 की कमी में योगदान देने वाली अंतर्निहित स्थितियों, जैसे घातक एनीमिया या गैस्ट्रोइंटेस्टाइनल विकारों का इलाज करना, दीर्घकालिक प्रबंधन के लिए महत्वपूर्ण है।

विटामिन बी12 की कमी के सफल प्रबंधन के लिए बी12 स्तरों की नियमित निगरानी और उपचार सिफारिशों का अनुपालन महत्वपूर्ण है।

और अधिक पढ़े: प्रोटीन युक्त आहार लिस्ट: 15 हाई प्रोटीन फूड्स

बचाव

विटामिन बी 12 की कमी को रोकने में बी 12 युक्त खाद्य पदार्थों का पर्याप्त सेवन सुनिश्चित करने और अवशोषण को ख़राब करने वाले कारकों को संबोधित करने के लिए रणनीतियों को अपनाना शामिल है। कमी को रोकने के कुछ तरीके यहां दिए गए हैं:

  • बी12 से भरपूर खाद्य पदार्थों का सेवन करें: अपने आहार में विटामिन बी12 से भरपूर खाद्य पदार्थों को शामिल करें, जैसे मांस (बीफ, पोल्ट्री, भेड़ का बच्चा), मछली (सैल्मन, ट्राउट, टूना), शेलफिश, अंडे और डेयरी उत्पाद।
  • फोर्टिफाइड खाद्य पदार्थों पर विचार करें: फोर्टिफाइड अनाज, पौधे-आधारित दूध के विकल्प और पौष्टिक खमीर जैसे फोर्टिफाइड खाद्य पदार्थों को शामिल करें, खासकर यदि आप शाकाहारी आहार का पालन करते हैं।
  • अनुपूरक: यदि कमी का खतरा है या केवल आहार के माध्यम से बी12 की जरूरतों को पूरा करने में असमर्थ हैं, तो डॉक्टर द्वारा अनुशंसित बी12 अनुपूरक लेने पर विचार करें।
  • अंतर्निहित स्थितियों का इलाज करें: अंतर्निहित स्थितियों जैसे कि घातक एनीमिया या गैस्ट्रोइंटेस्टाइनल विकारों का प्रबंधन करें जो बी 12 अवशोषण को खराब कर सकते हैं।

इन निवारक उपायों को अपनाकर, आप पर्याप्त बी12 स्तर बनाए रख सकते हैं और कमी से संबंधित जटिलताओं के जोखिम को कम कर सकते हैं।

Interstitial Lung Disease: Causes, Symptoms, Diagnosis, and Management
Apr 3, 2024|Dr Vikas Mittal

Interstitial Lung Disease: Causes, Symptoms, Diagnosis, and Management

Interstitial lung disease (ILD) encompasses a diverse group of disorders characterised by inflammation and scarring of the lung tissue. This umbrella term includes conditions such as idiopathic pulmonary fibrosis (lung fibrosis), sarcoidosis, and connective tissue disease-associated ILD, among others. 

ILD poses significant challenges in diagnosis and management, often leading to progressive respiratory impairment and reduced quality of life. Understanding its complexities is crucial for effective patient care and research advancements.

What is Interstitial Lung Disease?

Interstitial lung disease (ILD) encompasses more than 200 conditions characterised by inflammation and scarring within the lungs.

It results in damage to the tissues surrounding the small air sacs (alveoli) and the adjacent blood vessels, leading to impaired oxygen transfer from the lungs to the body. ILD is alternatively known as diffuse parenchymal lung disease (DPLD).

What are the Types of Interstitial Lung Disease?

There exists a plethora of interstitial lung diseases, numbering over 200. Among these are:

  1. Asbestosis: Lung inflammation and scarring resulting from inhaling asbestos fibres.
  2. Bronchiolitis Obliterans: A condition leading to blockages in the smallest air passages of the lungs, known as bronchioles.
  3. Coal Worker’s Pneumoconiosis: Lung ailment induced by exposure to coal dust, also termed black lung disease.
  4. Chronic Silicosis: Lung disorder triggered by inhalation of silica mineral particles.
  5. Connective Tissue-related Pulmonary Fibrosis: Lung ailment affecting individuals with connective tissue disorders like scleroderma or Sjögren syndrome.
  6. Desquamative Interstitial Pneumonitis: Lung inflammation predominantly observed in smokers.
  7. Familial Pulmonary Fibrosis: Accumulation of scar tissue in the lungs impacting two or more family members.
  8. Hypersensitivity Pneumonitis: Alveoli inflammation due to inhaling allergens or irritants.
  9. Idiopathic Pulmonary Fibrosis: Lung condition characterised by unexplained scar tissue formation.
  10. Sarcoidosis: Disease causing the formation of small clusters of inflammatory cells in organs such as the lungs and lymph nodes.

You Can Also Read: Tuberculosis: Causes, Symptoms, Diagnosis & Treatment

What are the Symptoms of Interstitial Lung Disease?

Interstitial lung disease can manifest with a range of symptoms due to lung damage, irritation, and reduced oxygen levels. These may include:

  • Difficulty breathing, particularly during physical activity or stair-climbing.
  • Persistent dry cough.
  • Abnormal breathing sounds.
  • Fatigue.
  • Chest discomfort or pain.
  • Clubbing of fingers or toes.

Symptoms vary, resembling other respiratory issues. Consult a doctor if you experience shortness of breath or any unusual symptoms. Early diagnosis enables treatment initiation for interstitial lung disease.

What are the Causes of Interstitial Lung Disease?

Interstitial lung disease causes are categorised as known or unknown. Known causes result from existing diseases or exposures, while idiopathic cases lack identifiable causes or exposures.

Known Causes

  • Disorders of the connective tissue: lupus, scleroderma, and rheumatoid arthritis (RA).
  • Granulomatous diseases: like sarcoidosis.
  • Inhalation of certain substances: such as asbestos, silica, tobacco, and beryllium.
  • Allergic reactions to inhaled substances: including molds, fungi, bacteria, and bird feathers/droppings.
  • Medications or treatments: such as amiodarone, nitrofurantoin, methotrexate, and radiation therapy.

Unknown Causes (Idiopathic)

  • When ILD occurs without an identifiable underlying condition or exposure.
  • The most common form: is idiopathic pulmonary fibrosis (IPF).

What are the Complications of Interstitial Lung Disease?

Interstitial lung disease may result in various complications, including:

  • Lung infections
  • Lung collapse
  • Respiratory failure
  • Right-sided heart failure
  • Lung cancer
  • Venous thromboembolism (blood clots in deep veins)
  • Pulmonary hypertension (high blood pressure in the lungs)
  • Delayed growth in children

Early diagnosis of interstitial lung disease and adherence to your treatment regimen can potentially lower the risk of these complications.

You Can Also Read: Asthma: Understanding Types, Causes, Symptoms, Diagnosis, and Treatment

How is Interstitial Lung Disease Diagnosed?

Your healthcare provider (Interstitial Lung Disease Doctor) will diagnose interstitial lung disease through a comprehensive process involving various examinations and tests, such as:

  • Physical Examination: Your provider will conduct a physical exam, listening for abnormal lung sounds and assessing your overall lung function.
  • Medical History: They’ll inquire about your medical history, existing conditions, medications, and familial predispositions to certain diseases.
  • Exposure Assessment: Discussion on occupational and hobby-related exposures potentially linked to interstitial lung disease (ILD).
  • Pulmonary Function Tests: These assess lung functionality through breathing, blood, or exercise tests.
  • Imaging Tests: X-rays or CT scans capture detailed lung images for analysis.
  • Blood Tests: Examining blood samples for indications of ILD causes.
  • Bronchoscopy: Involves inserting a bronchoscope to inspect airways for abnormalities.
  • Biopsy: Extracting lung tissue for microscopic examination, aiding in ILD-type identification.

What is the Treatment for Interstitial Lung Disease?

Treatment for interstitial lung disease (ILD) primarily addresses underlying conditions and symptom management. Below are the various methods used to treat this disease:

  • Corticosteroids: Prednisone and similar drugs help reduce inflammation.
  • Anti-Fibrotic and Cytotoxic Drugs: Azathioprine, cyclophosphamide, pirfenidone, and nintedanib can slow lung scarring.
  • Biologic Drugs: Rituximab and others may target autoimmune diseases causing ILD.
  • GERD Treatment: Medications to manage Gastroesophageal reflux disease (GERD) prevent exacerbation of ILD.
  • Pulmonary Rehabilitation: Breathing exercises and physical therapy strengthen the lungs.
  • Oxygen Therapy: Supplemental oxygen via mask or nasal tube aids insufficient oxygenation.
  • Lung Transplant: Severe cases may necessitate transplantation.

Conclusion

Interstitial lung disease represents a complex array of conditions with a significant impact on individuals’ health. Early detection, comprehensive management, and ongoing research remain crucial for improving outcomes and enhancing quality of life. It is always advisable to seek medical help from an experienced pulmonologist. Timely care and help can ensure an appropriate diagnosis and treatment of your condition. 

At the CK Birla Hospital, we ensure patients get holistic medical support which includes treatment in a compassionate environment. This patient-centric approach not only helps patients heal better but also ensures they are aware of the preventive measures as well. In case you need to consult a pulmonologist, reach out to us, or book a direct appointment at the CK Birla Hospital.

FAQs

Is Interstitial Lung Disease Curable?

Interstitial lung disease (ILD) encompasses various conditions; some types are treatable but not curable. Management focuses on symptom relief, slowing progression, and addressing underlying causes, though a complete cure remains elusive for many cases.

Can Interstitial Lung Disease be Reversed?

Some forms of interstitial lung disease (ILD) may improve or stabilise with treatment, but complete reversal is rare. Early detection, appropriate management, and lifestyle changes can help mitigate symptoms and slow progression.

Can Interstitial Lung Disease Lead to Respiratory Failure?

Advanced stages of interstitial lung disease (ILD) can lead to respiratory failure due to progressive scarring and damage to lung tissue, impairing the ability to exchange oxygen and carbon dioxide effectively.

Are there any Dietary Restrictions for Individuals With Interstitial Lung Disease?

While no specific dietary restrictions apply universally to interstitial lung disease (ILD), maintaining a balanced diet rich in fruits, vegetables, and lean proteins, and staying adequately hydrated can support overall health and lung function.

Can Interstitial Lung Disease Be Prevented?

Prevention of interstitial lung disease (ILD) involves reducing exposure to known risk factors such as smoking, environmental pollutants, and occupational hazards. Early detection and prompt treatment of lung conditions can help mitigate risks.

Is Interstitial Lung Disease Contagious?

Interstitial lung disease (ILD) is not contagious. It is a non-communicable condition characterised by inflammation and scarring of lung tissue, usually caused by environmental or autoimmune factors, not pathogens.

Myositis: Symptoms, Causes, Diagnosis, and Treatment

Myositis: Symptoms, Causes, Diagnosis, and Treatment

Myositis, a group of rare autoimmune diseases characterised by muscle inflammation, presents unique challenges and complexities for both patients and healthcare providers. Understanding its diverse manifestations, from weakness and fatigue to skin rashes, is crucial for accurate diagnosis and effective management.

In this blog, we delve into the intricacies of myositis, exploring its symptoms, diagnosis, treatment options, and the latest research advancements. By unravelling the mysteries surrounding myositis, we aim to empower patients with knowledge and provide healthcare professionals with valuable insights into this often misunderstood condition.

What is Myositis?

Myositis, an immune system disorder, induces chronic muscle inflammation, leading to weakness and pain. It falls under myopathy, affecting skeletal muscles, including those in the arms, legs, abdomen, and spine. Some experience weakness in the eyes, oesophagus, or diaphragm.

Its cause remains uncertain, with no cure available. Treatment focuses on symptom management and exercise. Seek medical help for weakness, mobility issues, or respiratory distress.

What are the Types of Myositis?

A healthcare provider diagnoses myositis based on symptoms and affected muscle locations. Forms of myositis include:

Polymyositis

  • Affects multiple muscles, commonly those near the body’s center. Develops gradually, primarily in adults, more prevalent in women.
  • Symptoms include difficulty standing, climbing stairs, lifting objects, and reaching overhead.

Dermatomyositis

  • Affects skin and muscles, with varying onset times. Early treatment is crucial to prevent severe complications or fatality.
  • Can increase cancer risk, particularly within the first year.

Inclusion Body Myositis         

  • Degenerative muscle disease, typically affecting those over 50. It causes weakness in extremities and swallowing difficulties, with around 30% developing dysphagia.  
  • Symptoms may include difficulty with precise tasks, gripping, walking, standing, and swallowing.

What are the Symptoms of Myositis?

Symptoms of myositis encompass:

  • Weakness in muscles.
  • Pain in joints or muscles.
  • Fatigue.
  • Swelling.
  • Difficulty breathing or swallowing.
  • Arrhythmia (in cases where myositis impacts the heart).

During symptomatic episodes, movement or usual activities might pose challenges. Increased fatigue or a sense of loss of control over limbs may be experienced.

Various forms of myositis manifest distinct symptoms. Your healthcare provider will outline anticipated symptoms and their specific manifestations for your condition.

You Can Also Read: Raynaud’s Disease: Symptoms, Causes, Diagnosis, and Management

What are the Causes of Myositis?

The exact cause of myositis remains uncertain according to experts. While it can manifest independently, it is sometimes precipitated by underlying health conditions.

Myositis is categorised as an autoimmune disorder, wherein the immune system mistakenly targets the body rather than safeguarding it. The reasons behind this misdirection are not fully understood. 

Some individuals are more predisposed to developing myositis due to their autoimmune conditions, like: 

  • Lupus
  • Rheumatoid arthritis
  • Scleroderma

Additionally, some individuals may experience myositis following a viral infection such as:

  • The common cold
  • Influenza (the flu)
  • HIV

What are the Complications of Myositis?

Muscle inflammation is the hallmark of myositis, which can lead to several problems, including:

  • Muscle weakness and impaired mobility
  • Dysphagia due to inflamed swallowing muscles
  • Respiratory compromise or failure in severe cases
  • Contractures from prolonged inflammation
  • Calcifications, particularly in inclusion body myositis
  • Chronic pain and fatigue affecting daily life
  • Skin issues like rashes in dermatomyositis
  • Systemic complications in autoimmune-related myositis
  • Treatment side effects such as infections and bone loss.

Management involves a multidisciplinary approach, including rheumatologists and physical therapists, to minimise risks and enhance quality of life. Regular medical care is crucial for monitoring and addressing potential complications effectively.

How is Myositis Diagnosed?

People with myositis often receive misdiagnosis due to the rarity of the condition and the similarity of its primary symptoms to those of other common diseases, such as muscle weakness and fatigue.

To aid in the diagnosis, physicians may utilise a combination of the following methods:

  • Physical examinations
  • Muscle biopsies
  • Electromyography
  • Magnetic resonance imaging
  • Nerve conduction studies
  • Blood tests to assess CPK levels
  • Antinuclear antibody blood tests
  • Myositis-specific antibody panel blood tests
  • Genetic testing

You Can Also Read: Prone to Frequent Lower Back Pain? 7 Things to Know About Ankylosing Spondylitis

What is the Treatment for Myositis?

Myositis has no known cure. Instead, your healthcare provider will focus on managing your symptoms to minimise their interference with your daily life. The aim is to alleviate your symptoms until the myositis enters a state of remission, characterised by minimal or no inflammation in your muscles. Common treatments for myositis encompass:

  1. Corticosteroids.
  2. Immunosuppressants.
  3. Intravenous immunoglobulin.

Additionally, your healthcare provider or physical therapist will prescribe stretches and exercises tailored to maintain flexibility and strength in your affected muscles. This proactive approach can help alleviate pain and stiffness and mitigate the impact of future episodes.

Conclusion

Myositis presents a complex array of symptoms, requiring personalised treatment approaches. Awareness, early detection, and interdisciplinary care are pivotal in managing this condition effectively and improving patients’ quality of life. It is always advisable to seek medical help from an experienced rheumatologist. Timely care and help can ensure an appropriate diagnosis and treatment of your condition. 

At the CK Birla Hospital, we ensure patients get holistic medical support which includes treatment in a compassionate environment. This patient-centric approach not only helps patients heal better but also ensures they are aware of the preventive measures as well. In case you need to consult a rheumatologist, reach out to us, or book a direct appointment at the CK Birla Hospital. (Booking Link).

FAQs

Can Myositis Affect Children?

Myositis can affect children, although it’s relatively rare. Juvenile dermatomyositis (JDM) is the most common form, causing muscle weakness and skin rash, often requiring medical intervention.

Is Myositis Contagious?

Myositis is not contagious. It’s an autoimmune condition where the body’s immune system attacks its muscles, leading to inflammation and weakness.

Can Myositis Lead to Disability?

Yes, myositis can lead to disability, especially if left untreated or if severe muscle damage occurs. Proper management, including medication and therapy, can help minimise disability.

Are There Specific Triggers That Worsen Myositis Symptoms?

Certain triggers like infections, stress, overexertion, and exposure to certain medications or environmental factors can worsen myositis symptoms by exacerbating inflammation and muscle weakness.

How Often Should Patients With Myositis Have Follow-up Appointments?

Patients with myositis should typically have regular follow-up appointments every few months to monitor their condition, adjust treatment as needed, and address any emerging symptoms or concerns.