Amyloidosis in multiple myeloma or without apparent cause

Area of Science:

• Nephrology
• Hematology
• Pathology

Background:

• Primary amyloidosis (AL) is a rare plasma cell disorder characterized by the deposition of misfolded immunoglobulin light chains.
• Manifestations are diverse, often leading to diagnostic delays and impacting patient outcomes.
• Multiple myeloma is a common underlying condition, but AL amyloidosis can also occur without apparent cause.

Purpose of the Study:

• To investigate the clinical manifestations, diagnostic findings, and survival outcomes in patients with primary amyloidosis (AL).
• To evaluate the potential for earlier diagnosis and identify factors influencing prognosis.

Main Methods:

• Retrospective analysis of 32 patients with primary amyloidosis (AL).
• Review of clinical presentations, including carpal tunnel syndrome and nephrosis.
• Assessment of biopsy findings (rectal, skin) and detection of lambda light chains in patients with monoclonal gammopathy.

Main Results:

• Carpal tunnel syndrome and nephrosis were the most frequent clinical signs.
• Amyloid infiltrates were detected in 65% of rectal biopsies; skin biopsies were largely negative.
• Lambda light chains were identified in 75% of patients with monoclonal gammopathy.
• Median survival was 14 months post-diagnosis, with a median 7-month delay from symptom recognition.

Conclusions:

• Delayed diagnosis is common in primary amyloidosis (AL), hindering timely intervention.
• Improved recognition of initial findings could facilitate earlier diagnosis.
• The prognosis for AL amyloidosis remains poor, with a lack of effective therapeutic options.