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Systemic Amyloidosis

Multi-organ disease from misfolded protein deposits

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 Systemic Amyloidosis?

Amyloidosis is the deposition of insoluble fibrillar protein aggregates in extracellular tissue.

Major systemic types include AL (light chain), ATTR (transthyretin — wild-type or hereditary), AA (serum amyloid A from chronic inflammation), and rarer forms (Aβ2M, AApoAI).

Diagnosis requires tissue biopsy with Congo red staining showing apple-green birefringence, plus typing by mass spectrometry or immunohistochemistry.

Cardiac involvement carries the worst prognosis and dictates treatment urgency.

Modern therapy targets the precursor protein source: chemotherapy/CD38 antibodies for AL, TTR stabilizers/silencers for ATTR, IL-1 or IL-6 blockade for AA.

Symptoms

Unexplained heart failure with preserved ejection fraction, low voltage on ECG and thickened ventricular walls
Nephrotic-range proteinuria with progressive renal insufficiency
Painful peripheral neuropathy, carpal tunnel syndrome (often bilateral)
Orthostatic hypotension and autonomic dysfunction
Macroglossia, periorbital purpura, easy bruising (suggestive of AL)
Unintentional weight loss, fatigue, gastrointestinal motility disturbance
Hepatomegaly with elevated alkaline phosphatase, splenomegaly

Risk Factors

Plasma cell dyscrasia or multiple myeloma (AL amyloidosis)
Chronic inflammatory disorders such as rheumatoid arthritis, familial Mediterranean fever or chronic infection (AA)
Hereditary TTR mutations (ATTRv) — Val122Ile and Thr60Ala among others
Older age, particularly in men over 65 for wild-type ATTR
Long-standing dialysis (β2-microglobulin amyloidosis)
Family history of amyloidosis or unexplained early cardiomyopathy

When to See a Doctor?

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

  • Heart failure symptoms with thickened myocardium on echocardiography
  • Bilateral carpal tunnel syndrome alongside cardiac symptoms
  • Persistent unexplained proteinuria
  • Sensorimotor neuropathy with autonomic features
  • Progressive unintentional weight loss with multi-organ findings

Treatment Methods

01
Definitive amyloid typing via mass spectrometry or immunohistochemistry on biopsy tissue
02
AL amyloidosis: bortezomib-based regimens, daratumumab, and autologous stem cell transplant in eligible patients
03
ATTR cardiac amyloidosis: TTR stabilizers (tafamidis, acoramidis) and gene silencers (patisiran, vutrisiran, inotersen)
04
AA amyloidosis: aggressive treatment of underlying inflammation; IL-1 (anakinra, canakinumab) or IL-6 blockade where indicated
05
Cardiac support with diuretics, careful blood pressure management; avoid digoxin and calcium channel blockers in cardiac amyloid
06
Multidisciplinary follow-up including cardiology, hematology, nephrology, neurology and genetic counseling for hereditary forms

Which Department to Visit?

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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.