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Amyloidosis

Systemic disease in which abnormal protein (amyloid) deposits cause organ damage.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Dahiliye (İç Hastalıkları) department. Book Appointment →

What is Amyloidosis?

Amyloidosis is a group of diseases characterized by misfolding of normally soluble proteins and their deposition in tissues as insoluble amyloid fibrils. AL amyloidosis (light chain), AA amyloidosis (secondary), and ATTR amyloidosis (transthyretin) are the most common types.

AL amyloidosis is associated with plasma cell dyscrasia and may involve the heart, kidney, nervous system, and soft tissues. AA amyloidosis develops on the background of chronic inflammatory diseases (rheumatoid arthritis, FMF) due to deposition of serum amyloid A protein.

Diagnosis is established by tissue biopsy showing amyloid deposits with Congo red staining and apple-green birefringence under polarized light. Treatment differs according to amyloid type.

Symptoms

Fatigue and weight loss
Nephrotic syndrome (proteinuria, edema)
Heart failure findings (shortness of breath, leg swelling)
Peripheral neuropathy (numbness, tingling)
Macroglossia (enlarged tongue — in AL amyloidosis)
Purpura (especially around the eyes — in AL amyloidosis)

Risk Factors

Chronic inflammatory diseases (for AA amyloidosis)
Monoclonal gammopathy or multiple myeloma (for AL amyloidosis)
Advanced age (for ATTR amyloidosis)
Familial Mediterranean fever (risk for AA amyloidosis)
TTR gene mutations (hereditary ATTR)

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • When unexplained kidney failure or nephrotic syndrome develops
  • When heart failure is detected with thickened heart wall that cannot be explained
  • When the cause of peripheral neuropathy cannot be found
  • When tongue enlargement or bruising around the eyes is noticed

Treatment Methods

01
AL amyloidosis: Bortezomib-based chemotherapy and autologous stem cell transplantation
02
AA amyloidosis: Control of the underlying inflammatory disease
03
ATTR amyloidosis: Tafamidis (transthyretin stabilizer)
04
Patisiran or inotersen (in hereditary ATTR neuropathy)
05
Organ transplantation (in advanced organ failure)

Which Department to Visit?

You can visit our Dahiliye (İç Hastalıkları) department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Dahiliye (İç Hastalıkları) Department

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.