Disease Directory Light Chain Amyloidosis
Cardiovascular

Light Chain Amyloidosis

Also known as: AL amyloidosis, primary amyloidosis, immunoglobulin light-chain amyloidosis

Prevalence

Approximately 8–12 per million per year

Onset

Adulthood; median diagnosis in the sixth decade

Type

Acquired (clonal plasma cell disorder)

About Light Chain Amyloidosis

Light Chain Amyloidosis is caused by a clonal population of plasma cells in the bone marrow producing misfolded immunoglobulin light chains that aggregate into amyloid fibrils and deposit in vital organs, most critically the heart and kidneys. Unlike hereditary amyloidosis, AL is not inherited but arises de novo and is closely related to multiple myeloma, requiring haematological treatment directed at the underlying plasma cell clone. Cardiac involvement, present in up to 70% of patients at diagnosis, is the primary determinant of prognosis and drives treatment urgency; the introduction of daratumumab-based combination regimens has markedly improved haematological response rates and cardiac outcomes.

Common Clinical Features

Heart failure with preserved or reduced ejection fraction Periorbital purpura (raccoon eyes) pathognomonic but uncommon Macroglossia Nephrotic-range proteinuria and progressive renal impairment Peripheral neuropathy and carpal tunnel syndrome Orthostatic hypotension due to autonomic neuropathy Fatigue, weight loss, and early satiety Elevated NT-proBNP disproportionate to degree of overt heart failure

Clinical Trial Eligibility Tips

What to know before applying to Light Chain Amyloidosis trials.

Confirmation of AL amyloidosis requires both demonstration of amyloid deposits (Congo red biopsy) and proof of a clonal plasma cell disorder (serum/urine protein electrophoresis, free light chain assay, bone marrow biopsy); all results are required for trial screening.

Cardiac staging (Mayo 2004 or 2012 criteria using NT-proBNP and troponin) is used to stratify eligibility; Stage IIIb/IV patients may be excluded from some trials due to safety concerns.

Prior haematological treatment lines and response status affect eligibility for relapsed/refractory trials; a detailed treatment history including cycle counts and best responses is essential.

Patient Resources

Patient Organization

Amyloidosis Research Consortium

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Natural History Registry

Amyloidosis Foundation Registry

Join registry ↗

Orphanet

European reference resource for rare diseases (ORPHA:85443)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Light Chain Amyloidosis trials

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