Amyloidosis

Amyloidosis is a rare but serious condition that occurs when abnormal proteins—called amyloids—accumulate in tissues and organs, disrupting their normal function. It can affect a wide range of organs, including the heart, kidneys, liver, spleen, nervous system, and digestive tract.

Though uncommon, amyloidosis requires early detection and targeted treatment, as it can lead to organ failure and severe complications. This in-depth guide will help you understand the condition, including its types, causes, symptoms (as shown in the Sparsh infographic), diagnostic methods, and treatment options.

What is Amyloidosis?

Amyloidosis is a group of diseases characterized by the accumulation of misfolded amyloid proteins in various tissues and organs. These proteins, which are normally soluble, become insoluble and deposit in organs like the heart, kidneys, liver, spleen, and nervous system, impairing their normal function.

Types of Amyloidosis

There are several types of amyloidosis, classified based on the protein involved:

1. AL (Light Chain) Amyloidosis

• The most common form in developed countries.

• Caused by abnormal plasma cells producing excess light chains (a type of antibody).

• Often associated with multiple myeloma.

• Organs affected: kidneys, heart, liver, nervous system.

2. AA (Secondary) Amyloidosis

• Occurs due to chronic inflammatory conditions like rheumatoid arthritis, tuberculosis, or Crohn’s disease.

• Protein involved: Serum Amyloid A.

• Organs affected: kidneys, liver, spleen.

3. ATTR (Transthyretin) Amyloidosis

• Caused by deposits of abnormal transthyretin protein, made in the liver.

• Two types:

  • Hereditary ATTR (hATTR): Inherited mutation.

  • Wild-type ATTR: Occurs in older adults, often affects the heart.

4. Dialysis-Related Amyloidosis

• Seen in long-term dialysis patients.

• Protein involved: β2-microglobulin.

• Commonly affects bones, joints, and tendons.

Causes and Risk Factors

Amyloidosis is not always inherited; many forms are acquired. Common risk factors include:

• Chronic inflammatory diseases (rheumatoid arthritis, IBD)

• Chronic infections (tuberculosis, osteomyelitis)

• Plasma cell disorders (multiple myeloma)

• Long-term dialysis

• Age > 60

• Family history of amyloidosis

• Certain genetic mutations (in hereditary ATTR)

Signs and Symptoms of Amyloidosis

Amyloidosis symptoms depend on the organs affected. The infographic from Sparsh Diagnostic Centre highlights the most common signs:

1. Purpura Around the Eyes (“Raccoon Eyes”)

• Dark circles or bruises around the eyes without trauma.

• Due to amyloid deposition weakening capillaries.

2. Hypothyroidism

• Amyloid deposition in the thyroid gland can lead to underactive thyroid.

• Symptoms: fatigue, weight gain, dry skin, cold intolerance.

3. Heart Failure

• Infiltration of amyloid proteins stiffens the heart muscle (restrictive cardiomyopathy).

• Symptoms: shortness of breath, swelling in legs, fatigue, palpitations.

4. Liver Enlargement (Hepatomegaly)

• May cause abdominal fullness, discomfort, or elevated liver enzymes.

5. Spleen Enlargement (Splenomegaly)

• May lead to low platelet count, anemia, and abdominal discomfort.

6. Nephrotic Syndrome / Kidney Damage

• One of the most common and serious manifestations.

• Symptoms: foamy urine, swelling in legs, proteinuria, kidney failure.

7. Nausea and Digestive Issues

• Amyloid deposits in the gastrointestinal tract may cause nausea, diarrhea, constipation, or malabsorption.

8. Chronic Synovitis and Carpal Tunnel Syndrome

• Joint pain and swelling due to amyloid infiltration.

• Carpal tunnel symptoms: numbness, tingling, and pain in the hands.

9. Skin Changes

• Easy bruising, waxy thickening of the skin, or lumps under the skin.

10. Neurological Symptoms

• Peripheral neuropathy: tingling, numbness, or pain in hands and feet.

• Autonomic dysfunction: low blood pressure, dizziness, GI motility issues.

Complications of Amyloidosis

• Congestive heart failure

• Chronic kidney disease or kidney failure

• Liver failure

• Gastrointestinal bleeding

• Severe hypotension (especially postural)

• Respiratory difficulty (due to lung involvement)

• Malnutrition and weight loss

Diagnosis of Amyloidosis

1. Medical History and Physical Examination

Doctors look for clinical clues like unexplained swelling, fatigue, or weight loss, especially in high-risk patients.

2. Laboratory Tests

• Urinalysis for proteinuria (sign of nephrotic syndrome).

• Blood tests for liver and kidney function.

• Serum and urine protein electrophoresis (SPEP/UPEP) to detect monoclonal light chains.

• Serum free light chain assay.

• Genetic testing (for hereditary ATTR).

3. Biopsy

• Tissue biopsy (fat pad, kidney, rectum, or organ-specific) is stained with Congo red, which shows apple-green birefringence under polarized light—a hallmark of amyloid.

4. Imaging Studies

• Echocardiography: To detect restrictive cardiomyopathy.

• MRI/CT scan: Assessing organ enlargement.

• Scintigraphy (SAP scan or DPD scan): Detects amyloid deposits.

5. Bone Marrow Biopsy

Used in AL amyloidosis to evaluate plasma cell abnormalities.

Treatment of Amyloidosis

Treatment depends on the type and extent of organ involvement.

1. AL Amyloidosis

• Chemotherapy (similar to multiple myeloma regimens): cyclophosphamide, bortezomib, dexamethasone (CyBorD).

• Autologous stem cell transplant in eligible patients.

• Monoclonal antibodies like daratumumab.

2. AA Amyloidosis

• Treat the underlying inflammatory disease (e.g., RA or TB).

• Use of biologics (e.g., TNF inhibitors) to reduce inflammation.

• Colchicine in certain cases.

3. ATTR Amyloidosis

• Liver transplant (for hereditary types).

• Tafamidis – stabilizes transthyretin and slows disease progression.

• Patisiran and Inotersen – RNA interference therapies that reduce TTR production.

4. Dialysis-Related Amyloidosis

• Optimize dialysis efficiency.

• Kidney transplant in selected cases.

• Use of beta-2 microglobulin filtration techniques.

Supportive Treatments

Regardless of type, the following may help improve quality of life:

• Diuretics for fluid retention.

• ACE inhibitors or ARBs for kidney protection.

• Pain management for neuropathy.

• Physical therapy for joint issues.

• Nutritional support for weight loss and malabsorption.

• Pacemakers for heart rhythm abnormalities.

• Compression stockings for hypotension.

Lifestyle and Monitoring

Regular Follow-ups

Frequent check-ups are essential to monitor organ function and treatment response.

Low-Sodium, High-Protein Diet

Helpful for kidney and heart involvement.

Hydration and Electrolyte Balance

Especially important in those with autonomic symptoms or GI losses.

Infection Prevention

Vaccinations and hand hygiene, especially in immunosuppressed patients.

Prognosis

The outlook depends on:

• Type of amyloidosis

• How many organs are affected

• How early the condition is diagnosed

AL Amyloidosis:

• Prognosis is poor without treatment; survival can improve significantly with early diagnosis and therapy.

ATTR Amyloidosis:

• Slower progression in wild-type ATTR; newer drugs (like tafamidis) show promise in improving outcomes.

AA Amyloidosis:

• Prognosis improves dramatically with successful control of the underlying inflammatory disease.

Prevention and Early Detection

While not all forms are preventable, early intervention can prevent irreversible organ damage. People with the following conditions should undergo routine screening for amyloidosis:

• Multiple myeloma or MGUS

• Chronic inflammatory diseases

• Family history of amyloidosis

• Unexplained proteinuria or organ dysfunction

Amyloidosis at a Glance

When to See a Doctor

Consult a healthcare provider if you experience:

• Unexplained swelling (especially legs)

• Foamy urine or sudden kidney issues

• Persistent fatigue or shortness of breath

• Weight loss without trying

• Numbness or tingling in extremities

Early diagnosis can significantly improve outcomes.

Amyloidosis is a complex and often underdiagnosed condition with potentially serious consequences. However, advancements in diagnostics and treatment options have improved survival and quality of life for many patients.

If you or someone you know is experiencing symptoms consistent with amyloidosis—or has a related chronic condition—it’s important to seek timely medical evaluation. Multidisciplinary care, including nephrology, cardiology, and hematology, can be life-saving.

Need Help?

At Sparsh Diagnostic Centre, we offer:

• Comprehensive blood and urine tests

• Ultrasound and imaging services

• Biopsy services

• Cardiac evaluations

• Specialist consultations

📞 Call us at 9830117733 / 8335049501
🌐 Visit: www.sparshdiagnostica.com

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