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Amyloidosis: Diagnosis and Treatment

Systemic disease driven by abnormal protein deposition in tissues

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 Hematoloji department. Book Appointment →

What is Amyloidosis: Diagnosis and Treatment?

Amyloidosis is a group of diseases in which normally soluble proteins misfold into insoluble fibrils that deposit in tissues and damage organs. AL (light-chain) amyloidosis is the most common type seen in hematology practice and is driven by deposition of monoclonal light chains produced by plasma cells.

The heart, kidneys, liver, nervous system, and gastrointestinal tract are most often involved. Cardiac involvement (restrictive cardiomyopathy) is the leading prognostic factor. NT-proBNP and troponin are used for cardiac assessment and staging.

Treatment targets the underlying clonal plasma cell disease. Daratumumab plus bortezomib, cyclophosphamide, and dexamethasone (Dara-VCd) is the current frontline standard. Eligible patients may proceed to autologous stem cell transplant for deeper hematologic responses, with concurrent organ-directed support such as diuretics or pacing.

Symptoms

Nephrotic syndrome with proteinuria and edema
Heart failure findings such as dyspnea and leg edema
Peripheral neuropathy with hand and foot numbness
Macroglossia (tongue enlargement) is characteristic of AL amyloidosis
Periorbital purpura around the eyes
Hepatomegaly

Risk Factors

History of MGUS or multiple myeloma
Known monoclonal gammopathy
Older age
Chronic inflammatory disease (for AA amyloidosis)

When to See a Doctor?

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

  • Unexplained nephrotic syndrome or heart failure
  • Periorbital purpura combined with macroglossia
  • Signs of organ involvement in known MGUS

Treatment Methods

01
Dara-VCd (daratumumab, bortezomib, cyclophosphamide, dexamethasone)
02
Autologous stem cell transplant in eligible patients
03
Cardiac support with diuretics; cautious low-dose digoxin if used
04
Renal support including dialysis when needed
05
Monitoring of NT-proBNP and serum free light chains
06
Assessment of organ response over time

Which Department to Visit?

You can visit our Hematoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Hematoloji Department

Let us help you

You can make an appointment with our specialists or contact us for your concerns.

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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.