DISEASE SCANNER

Global Incurable Diseases Tracker

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Rare Disease

Amyloidosis

HIGH SEVERITY

A group of diseases characterized by abnormal protein (amyloid) deposition in tissues and organs, disrupting normal function. Can affect heart, kidneys, liver, spleen, nervous system, and digestive tract. Multiple types including AL (light chain), ATTR (transthyretin), and AA (secondary) amyloidosis.

Global Affected

50.0K

Countries

15

Symptoms

Fatigue
Shortness of breath
Swelling in legs (edema)
Numbness/tingling
Weight loss
Enlarged tongue
Irregular heartbeat
Carpal tunnel syndrome
Purpura around eyes

Treatment Options

Chemotherapy (AL type)
Autologous stem cell transplant
Tafamidis (ATTR type)
Patisiran/givosiran
Liver transplant
Heart transplant
Kidney transplant
Supportive care

Risk Factors

1Multiple myeloma (AL)
2Age >65 (ATTRwt)
3Genetic mutations (ATTRh)
4Chronic infections (AA)
5Family history
6Long-term dialysis

Diagnostic Methods

  • 1Tissue biopsy with Congo red staining
  • 2Mass spectrometry
  • 3Bone marrow biopsy (AL)
  • 4Cardiac MRI
  • 5Echocardiogram
  • 6Genetic testing
  • 7Serum free light chains
  • 8NT-proBNP, troponin

Prognosis

Variable by type and organ involvement. AL amyloidosis: median survival 12-18 months without treatment, 4+ years with modern therapy. ATTR-CM: tafamidis improves survival. Early diagnosis critical.

Prevention

  • No primary prevention for most types
  • Genetic counseling for hereditary forms
  • Early treatment of underlying conditions
  • Regular monitoring for at-risk families

Research Status

Treatments vary by type: AL amyloidosis - chemotherapy, stem cell transplant, daratumumab. ATTR amyloidosis - tafamidis stabilizer, patisiran gene silencing. Liver transplant for hereditary ATTR. Supportive care for organ failure.

Sources

  • https://www.cdc.gov/
  • https://www.hematology.org/education/patients
  • https://www.ncbi.nlm.nih.gov/books
  • https://rarediseases.org/rare-diseases

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.