ALアミロイドーシス

AL Amyloidosis

ALアミロイドーシスは免疫グロブリン軽鎖のミスフォールディングにより多臓器にアミロイドが沈着する全身性疾患である。感覚解離や自律神経障害を伴うニューロパチーは本疾患の重要な初発症状の1つであり，時にCIDPとの鑑別が必要である。本論では，臨床症候，診断，神経生検を含む病理所見，最新の治療法を概説し，脳神経内科的視点からの診療の重要性について論じた。

Abstract

AL amyloidosis is a systemic disease caused by misfolded immunoglobulin light chains deposited as amyloid fibrils in multiple organs. Peripheral neuropathy, which often presents with sensory dissociation and autonomic dysfunction, is a key initial manifestation that can occasionally be misdiagnosed as a chronic inflammatory demyelinating polyneuropathy. This review outlines clinical features and diagnostic strategies, including electrophysiological studies, nerve biopsy findings, and recent advances in treatment. Particular focus was given to the pathological mechanisms underlying neuropathy in AL amyloidosis, including axonal degeneration and myelin-Schwann cell interface abnormalities. We emphasized the importance of early diagnosis and multidisciplinary management from a neurological perspective.