全身性アミロイドーシスの臨床

Clinical Aspects of Systemic Amyloidosis

要旨●一見して非特異的な靱帯，腱アミロイドーシス症状（ばね指や手根管症候群，脊柱管狭窄症）が先行した後に発症する高齢者心筋症をみたら野生型ATTR（ATTRwt）アミロイドーシスを疑う．末梢神経障害に加えてred flag症状・所見と呼ばれる消化管/自律神経障害，心障害，眼症状などを認めたら遺伝性ATTR（ATTRv）アミロイドーシスを疑う．一見して原因不明の蛋白尿，心不全，消化管/自律神経障害，肝障害の組み合わせをみたら全身性ALアミロイドーシスを疑う．これらに対してはM蛋白測定，骨シンチグラフィ，組織生検，TTR遺伝子検査などを行い，確定診断した後に治療へと進む．

　Wild-type transthyretin（ATTRwt）amyloidosis should be suspected in elderly patients presenting with cardiomyopathy that develops following symptoms of amyloidosis in ligaments and tendons, such as trigger finger, carpal tunnel syndrome, and spinal stenosis. Conversely, hereditary transthyretin amyloidosis should be suspected in patients with peripheral neuropathy accompanied by red-flag symptoms and findings, such as gastrointestinal/autonomic neuropathy, cardiac disorders, and ophthalmic symptoms. Systemic immunoglobulin light chain amyloidosis should be suspected in cases with unexplained proteinuria, heart failure, gastrointestinal/autonomic neuropathy, and liver dysfunction. Appropriate treatment should be initiated after a definitive diagnosis is established based on M-protein measurement, bone scintigraphy, tissue biopsy, and TTR gene testing, among other tests.