Amyloidosis 

Proteins play an elementary role in keeping the body healthy, but sometimes, they can cause unexpected problems. When abnormal proteins called amyloids accumulate in organs and tissues, they can lead to a serious condition called amyloidosis. 

This rare but complex disease affects different body parts, from the heart and kidneys to the nervous system. Understanding how this condition develops, recognising amyloidosis symptoms, and knowing the available treatment options are essential steps in managing this disease effectively. 

What Is Amyloidosis? 

Amyloidosis occurs when abnormal proteins called amyloids accumulate in tissues and organs throughout the body. This rare condition develops when proteins change their shape and form twisted clumps that can damage organs and disrupt their normal function. 

The condition can manifest in two primary forms: 

• Systemic amyloidosis affects multiple organs throughout the body, including the heart, kidneys, and liver. 
• Localised amyloidosis targets only one specific area, typically affecting the skin, bladder, or airways. 

The following are common amyloidosis types: 

• AL (Primary) Amyloidosis - Affects plasma cells and commonly impacts the heart and kidneys 
• AA (Secondary) Amyloidosis - Develops due to chronic inflammation 
• ATTR Amyloidosis - Involves the transthyretin protein and can be inherited 

Symptoms of Amyloidosis 

The most common symptoms include: 

• Severe Fatigue and Weakness: Patients often experience extreme tiredness, making even simple tasks difficult 
• Unexplained Weight Loss: Many individuals lose 20-25 pounds without trying 
• Swelling: Particularly noticeable in the ankles, legs, and feet 
• Breathing Difficulties: Shortness of breath, especially during physical activity 
• Skin Changes: Including easy bruising, purple spots around the eyes, and waxy thickening 
• Neurological Issues: Numbness, tingling, or pain in hands and feet 
• Digestive Problems: Including diarrhoea, constipation, and feeling of fullness 
• Heart-related Symptoms: Irregular heartbeat and dizziness upon standing 

Amyloidosis Causes 

The development of amyloidosis can be attributed to various underlying conditions: 

• Chronic Inflammatory Diseases: Long-term inflammatory conditions like rheumatoid arthritis or inflammatory bowel disease 
• Blood Cell Disorders: Multiple myeloma and other plasma cell abnormalities 
• Genetic Factors: Inherited genetic mutations that affect protein production 
• Age-related Changes: Natural ageing processes that affect protein formation 
• Kidney Disease: Long-term dialysis or kidney dysfunction 

Risk Factors 

Several factors can increase an individual's risk of developing amyloidosis. 

• Age: Most cases occur in people over 60 years. 
• Gender: Men face a higher risk compared to women 
• Family History: It becomes crucial when considering hereditary forms of the condition. 
• Medical Conditions: Chronic infections, autoimmune disorders, and certain types of cancer 
• Infection: Individuals with a history of repeated infections or inflammatory conditions face an elevated risk of developing amyloidosis over time. 

Complications of Amyloidosis 

• Digestive Issues: Diarrhea, constipation, or difficulty absorbing nutrients 
• Kidney Damage: Long-term amyloidosis can hinder the kidneys' filtering functions, which can lead to kidney failure. 
• Organ Enlargement: Sometimes, amyloidosis can cause liver enlargement, resulting in pain or fullness in the abdomen. 
• Peripheral Neuropathy: Neurological complications represent one of the most significant challenges in amyloidosis. The condition commonly affects the peripheral nervous system, leading to nerve-related disorders. Patients may experience: 
  • Painful sensations and numbness 
  • Balance difficulties and coordination problems 
  • Sweating abnormalities 
  • Sexual function issues 

Amyloidosis Diagnosis 

The initial evaluation usually includes: 

• Blood and urine tests to detect abnormal protein levels 
• Imaging tests such as CT scans and echocardiograms to assess organ damage 
• Genetic testing to identify hereditary forms of the condition 
• Bone marrow examination to evaluate specific mutated proteins causing distinct amyloidosis 
• Biopsy: The most definitive method for confirming amyloidosis is through tissue biopsy. Doctors often perform an abdominal fat pad biopsy, which is minimally invasive and has excellent specificity. 

Treatment 

The main treatment options include: 

• Chemotherapy medications like melphalan and dexamethasone to destroy the abnormal plasma cells 
• Targeted therapy, like angiogenesis inhibitors, proteasome inhibitors, or monoclonal antibody therapy, targets specific proteins or tissues that cause amyloidosis. 
• Stem cell transplantation for suitable candidates 
• Novel medications such as patisiran and inotersen for hereditary forms 
• Supportive treatments, including diuretics and compression stockings 
• Organ transplantation in specific cases 

For patients with AA amyloidosis, treatment focuses on controlling the underlying inflammatory condition. Those with hereditary ATTR amyloidosis may benefit from recently approved medications that slow the progression of protein buildup. 

When to See a Doctor 

Recognising when to seek medical attention is necessary for managing amyloidosis effectively. Individuals should contact their doctor immediately if they experience persistent unexplained symptoms, mainly when multiple symptoms occur simultaneously. 

Home Remedies for Amyloidosis 

While medical treatment remains essential, several complementary home remedies can help manage the symptoms of amyloidosis and improve quality of life. 

• Lifestyle modifications play an important role in supporting overall health and managing the condition effectively. 
• Regular physical activity, within individual limitations, helps combat fatigue and maintain muscle strength. Patients should engage in gentle exercises after consulting their doctors about appropriate activity levels. 
• Dietary management forms a significant part of home care. Patients benefit from: 
  • Consuming high-fibre foods with adequate hydration 
  • Eating small, frequent meals every 2-3 hours 
  • Including nutrient-dense foods like avocados and nuts 
  • Avoiding processed foods and refined sugars 
  • Limiting coffee, alcohol, and spicy foods 
• Certain supplements help reduce inflammation and support overall health. Fish oil supplements (1,000 mg capsules) can help decrease inflammation, though patients taking blood-thinning medications should consult their doctor first. Vitamin C supplementation may also be beneficial, with recommended daily doses between 1-2 grams. 
• Meditation and deep breathing exercises, particularly before bedtime, can help manage stress & improve sleep quality. 
• For patients experiencing difficulty with traditional meals, doctors might recommend nutritional supplements or meal replacement shakes to ensure adequate nutrition. 

Prevention 

Current medical research indicates that most forms of amyloidosis cannot be prevented entirely. However, doctors emphasise the importance of managing underlying health conditions that might lead to certain types of this condition. 

While AL amyloidosis remains unpredictable and unpreventable, individuals can take specific steps to reduce their likelihood of developing AA amyloidosis: 

• Early treatment of chronic inflammatory conditions 
• Regular monitoring of kidney function 
• Proper management of familial Mediterranean fever with prescribed medications 
• Consistent medical check-ups for those with risk factors 
• Maintaining detailed health records for early symptom recognition 

Conclusion 

Success in managing amyloidosis depends mainly on early detection and proper medical intervention. Regular monitoring, lifestyle modifications, and adherence to prescribed treatments help patients maintain a better quality of life while managing their symptoms effectively. Though complete prevention remains challenging, proper management of risk factors and regular medical supervision offers the best path forward for individuals affected by or at risk for amyloidosis. 

FAQS 

1. Is amyloidosis curable? 

Currently, there is no complete cure for amyloidosis. However, doctors can effectively manage the condition and slow its progression through various treatment approaches. Life expectancy depends on the type of amyloidosis, affected organs, and how early treatment begins. 

2. What foods are bad for amyloidosis? 

While diet doesn't directly cause amyloidosis, certain foods may worsen symptoms. Patients should generally avoid: 

• High-sodium processed foods 
• Spicy & acidic foods that may irritate the digestive system 
• Foods high in saturated fats 

3. Who is most at risk of amyloidosis? 

The condition can develop in anyone, with certain groups facing higher risks. Men experience amyloidosis more frequently than women, particularly those over 50 years old. People with chronic inflammatory conditions or those undergoing long-term dialysis also face increased risks. 

4. At what age does amyloidosis start? 

Most cases of amyloidosis develop between ages 50 and 65. However, hereditary forms can appear earlier, typically between ages 40 and 65. The age of onset varies and depends on the specific type of amyloidosis and underlying genetic factors. 

5. What is the root cause of amyloidosis? 

Amyloidosis develops when proteins in the body change shape and form harmful deposits. Several factors can trigger this process: 

• Plasma cell disorders 
• Chronic inflammatory conditions 
• Genetic mutations 
• Age-related protein changes

Dr. Sandeep Kharkar

MBBS, MD (Int Med),PGCC (Rheumatology)
Ganga CARE Hospital Limited, Nagpur

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