Light-Chain Amyloidosis With Peripheral Neuropathy as an Initial Presentation.

Area of Science:

• Neurology
• Hematology
• Pathology

Background:

• Peripheral nerve involvement is a common manifestation of primary immunoglobulin light-chain (AL) amyloidosis.
• Understanding the clinical, pathological, and prognostic features of this presentation is vital for timely intervention.

Purpose of the Study:

• To elucidate the clinical, electrophysiological, pathological characteristics, and prognosis of peripheral nerve involvement in AL amyloidosis.
• To emphasize the importance of early diagnosis and treatment for improved patient outcomes.

Main Methods:

• Retrospective review of clinical data from eight AL amyloidosis patients presenting with peripheral neuropathy.
• Analysis included clinical features, histopathological findings from sural nerve biopsies, and treatment responses.
• Monoclonal protein analysis was performed on all patients.

Main Results:

• Patients presented with symptoms including lower extremity numbness, pain, and carpal tunnel syndrome, often with autonomic dysfunction.
• Sural nerve biopsies revealed amyloid deposition and significant myelinated fiber loss with axonal degeneration.
• Early chemotherapy (6-10 months post-onset) resulted in hematological responses, whereas delayed treatment (36 months) was associated with mortality.

Conclusions:

• Peripheral neuropathy as an initial symptom necessitates early recognition of AL amyloidosis.
• Nerve biopsy is a valuable diagnostic tool.
• Timely diagnosis and initiation of chemotherapy are critical for improving prognosis in AL amyloidosis patients with peripheral neuropathy.