日本の非集積地における高齢発症遺伝性ATTRアミロイドーシスの早期診断のための提言
非集積地の高齢発症遺伝性ATTRアミロイドーシスは，臨床症状が多様かつ非特異的で，家族歴も確認できないことが多いため，多くの場合診断までに長期間を要する．近年，本症に対する疾患修飾療法が使用可能となり早期診断の必要性が一段と高まっている．通常，診断にはまず組織学的なアミロイド沈着の確認が必要だが，アミロイド検出率は生検を実施する医師の経験，知識，技術に大きく依存する．原因不明の末梢神経障害で本症を鑑別疾患に想起することが重要であり，本症が強く疑われる場合，鑑別診断を十分行った上でTTR遺伝子検査を組織学的検査に先行して実施することも許容されると考える．...
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| Published in | 臨床神経学 Vol. 64; no. 10; pp. 708 - 713 |
|---|---|
| Main Authors | , , , , |
| Format | Journal Article |
| Language | Japanese |
| Published |
日本神経学会
2024
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| Subjects | |
| Online Access | Get full text |
| ISSN | 0009-918X 1882-0654 |
| DOI | 10.5692/clinicalneurol.cn-002002 |
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| Abstract | 非集積地の高齢発症遺伝性ATTRアミロイドーシスは，臨床症状が多様かつ非特異的で，家族歴も確認できないことが多いため，多くの場合診断までに長期間を要する．近年，本症に対する疾患修飾療法が使用可能となり早期診断の必要性が一段と高まっている．通常，診断にはまず組織学的なアミロイド沈着の確認が必要だが，アミロイド検出率は生検を実施する医師の経験，知識，技術に大きく依存する．原因不明の末梢神経障害で本症を鑑別疾患に想起することが重要であり，本症が強く疑われる場合，鑑別診断を十分行った上でTTR遺伝子検査を組織学的検査に先行して実施することも許容されると考える． |
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| AbstractList | 非集積地の高齢発症遺伝性ATTRアミロイドーシスは，臨床症状が多様かつ非特異的で，家族歴も確認できないことが多いため，多くの場合診断までに長期間を要する．近年，本症に対する疾患修飾療法が使用可能となり早期診断の必要性が一段と高まっている．通常，診断にはまず組織学的なアミロイド沈着の確認が必要だが，アミロイド検出率は生検を実施する医師の経験，知識，技術に大きく依存する．原因不明の末梢神経障害で本症を鑑別疾患に想起することが重要であり，本症が強く疑われる場合，鑑別診断を十分行った上でTTR遺伝子検査を組織学的検査に先行して実施することも許容されると考える． |
| Author | 安東, 由喜雄 植田, 光晴 丸山サラディーニ, 恵子 関島, 良樹 小池, 春樹 |
| Author_xml | – sequence: 1 fullname: 小池, 春樹 organization: 佐賀大学医学部内科学講座脳神経内科 – sequence: 1 fullname: 植田, 光晴 organization: 熊本大学大学院生命科学研究部脳神経内科学講座 – sequence: 1 fullname: 安東, 由喜雄 organization: 長崎国際大学薬学部アミロイドーシス寄付研究所 – sequence: 1 fullname: 関島, 良樹 organization: 信州大学医学部脳神経内科 リウマチ・膠原病内科 – sequence: 1 fullname: 丸山サラディーニ, 恵子 organization: Alnylam Japan株式会社メディカルアフェアーズ部 |
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| References | 15) Nishi M, Takashio S, Morioka M, et al. Extracardiac biopsy sensitivity in transthyretin amyloidosis cardiomyopathy patients with positive 99mTc-labeled pyrophosphate scintigraphy findings. Circ J 2022;86:1113-1120. 9) Luigetti M, Romano A, Di Paolantonio A, et al. Diagnosis and treatment of hereditary transthyretin amyloidosis (hATTR) polyneuropathy: current perspectives on improving patient care. Ther Clin Risk Manag 2020;16:109-123. 3) Ando Y, Coelho T, Berk JL, et al. Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis 2013;8:31. 4) Koike H, Misu K, Ikeda S, et al. Type I (transthyretin Met30) familial amyloid polyneuropathy in Japan: early- vs late-onset form. Arch Neurol 2002;59:1771-1776. 14) Adams D, Ando Y, Beirão JM, et al. Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy. J Neurol 2021;268:2109-2122. 22) Di Stefano V, Prinzi F, Luigetti M, et al. Machine learning for early diagnosis of ATTRv amyloidosis in non-endemic areas: a multicenter study from Italy. Brain Sci 2023;13:805. 10) Carroll A, Dyck PJ, de Carvalho M, et al. Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis. J Neurol Neurosurg Psychiatry 2022;93:668-678. 16) Planté-Bordeneuve V, Carayol J, Ferreira A, et al. Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families. J Med Genet 2003;40:e120. 1) Ueda M, Ando Y. Recent advances in transthyretin amyloidosis therapy. Transl Neurodegener 2014;3:19. 2) 関島良樹．アミロイドーシス治療の進歩．日本内科学会雑誌 2021;110:1170-1177. 19) Stats MA, Stone JR. Varying levels of small microcalcifications and macrophages in ATTR and AL cardiac amyloidosis: implications for utilizing nuclear medicine studies to subtype amyloidosis. Cardiovasc Pathol 2016;25:413-417. 7) Plante-Bordeneuve V. Transthyretin familial amyloid polyneuropathy: an update. J Neurol 2018;265:976-983. 18) Gillmore JD, Maurer MS, Falk RH, et al. Nonbiopsy diagnosis of cardiac transthyretin amyloidosis. Circulation 2016;133:2404-2412. 8) Sekijima Y, Ueda M, Koike H, et al. Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm. Orphanet J Rare Dis 2018;13:6. 12) Gillmore JD, Reilly MM, Coats CJ, et al. Clinical and genetic evaluation of people with or at risk of hereditary ATTR amyloidosis: an expert opinion and consensus on best practice in Ireland and the UK. Adv Ther 2022;39:2292-2301. 5) Ueda M, Yamashita T, Misumi Y, et al. Origin of sporadic late-onset hereditary ATTR Val30Met amyloidosis in Japan. Amyloid 2018;25:143-147. 17) Hellman U, Alarcon F, Lundgren HE, et al. Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population. Amyloid 2008;15:181-186. 21) Tozza S, Severi D, Spina E, et al. A compound score to screen patients with hereditary transthyretin amyloidosis. J Neurol 2022;269:4281-4287. 11) Conceição I, Damy T, Romero M, et al. Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR gene mutations. Amyloid 2019;26:3-9. 13) Ando Y, Adams D, Benson MD, et al. Guidelines and new directions in the therapy and monitoring of ATTRv amyloidosis. Amyloid 2022;29:143-155. 20) Vidal-Perez R, Vázquez-García R, Barge-Caballero G, et al. Diagnostic and prognostic value of cardiac imaging in amyloidosis. World J Cardiol 2020;12:599-614. 6) Conceição I, González-Duarte A, Obici L, et al. “Red-flag” symptom clusters in transthyretin familial amyloid polyneuropathy. J Peripher Nerv Syst 2016;21:5-9. |
| References_xml | – reference: 4) Koike H, Misu K, Ikeda S, et al. Type I (transthyretin Met30) familial amyloid polyneuropathy in Japan: early- vs late-onset form. Arch Neurol 2002;59:1771-1776. – reference: 8) Sekijima Y, Ueda M, Koike H, et al. Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm. Orphanet J Rare Dis 2018;13:6. – reference: 15) Nishi M, Takashio S, Morioka M, et al. Extracardiac biopsy sensitivity in transthyretin amyloidosis cardiomyopathy patients with positive 99mTc-labeled pyrophosphate scintigraphy findings. Circ J 2022;86:1113-1120. – reference: 22) Di Stefano V, Prinzi F, Luigetti M, et al. Machine learning for early diagnosis of ATTRv amyloidosis in non-endemic areas: a multicenter study from Italy. Brain Sci 2023;13:805. – reference: 12) Gillmore JD, Reilly MM, Coats CJ, et al. Clinical and genetic evaluation of people with or at risk of hereditary ATTR amyloidosis: an expert opinion and consensus on best practice in Ireland and the UK. Adv Ther 2022;39:2292-2301. – reference: 7) Plante-Bordeneuve V. Transthyretin familial amyloid polyneuropathy: an update. J Neurol 2018;265:976-983. – reference: 3) Ando Y, Coelho T, Berk JL, et al. Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis 2013;8:31. – reference: 10) Carroll A, Dyck PJ, de Carvalho M, et al. Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis. J Neurol Neurosurg Psychiatry 2022;93:668-678. – reference: 6) Conceição I, González-Duarte A, Obici L, et al. “Red-flag” symptom clusters in transthyretin familial amyloid polyneuropathy. J Peripher Nerv Syst 2016;21:5-9. – reference: 9) Luigetti M, Romano A, Di Paolantonio A, et al. Diagnosis and treatment of hereditary transthyretin amyloidosis (hATTR) polyneuropathy: current perspectives on improving patient care. Ther Clin Risk Manag 2020;16:109-123. – reference: 17) Hellman U, Alarcon F, Lundgren HE, et al. Heterogeneity of penetrance in familial amyloid polyneuropathy, ATTR Val30Met, in the Swedish population. Amyloid 2008;15:181-186. – reference: 21) Tozza S, Severi D, Spina E, et al. A compound score to screen patients with hereditary transthyretin amyloidosis. J Neurol 2022;269:4281-4287. – reference: 11) Conceição I, Damy T, Romero M, et al. Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR gene mutations. Amyloid 2019;26:3-9. – reference: 13) Ando Y, Adams D, Benson MD, et al. Guidelines and new directions in the therapy and monitoring of ATTRv amyloidosis. Amyloid 2022;29:143-155. – reference: 5) Ueda M, Yamashita T, Misumi Y, et al. Origin of sporadic late-onset hereditary ATTR Val30Met amyloidosis in Japan. Amyloid 2018;25:143-147. – reference: 19) Stats MA, Stone JR. Varying levels of small microcalcifications and macrophages in ATTR and AL cardiac amyloidosis: implications for utilizing nuclear medicine studies to subtype amyloidosis. Cardiovasc Pathol 2016;25:413-417. – reference: 2) 関島良樹．アミロイドーシス治療の進歩．日本内科学会雑誌 2021;110:1170-1177. – reference: 18) Gillmore JD, Maurer MS, Falk RH, et al. Nonbiopsy diagnosis of cardiac transthyretin amyloidosis. Circulation 2016;133:2404-2412. – reference: 1) Ueda M, Ando Y. Recent advances in transthyretin amyloidosis therapy. Transl Neurodegener 2014;3:19. – reference: 14) Adams D, Ando Y, Beirão JM, et al. Expert consensus recommendations to improve diagnosis of ATTR amyloidosis with polyneuropathy. J Neurol 2021;268:2109-2122. – reference: 20) Vidal-Perez R, Vázquez-García R, Barge-Caballero G, et al. Diagnostic and prognostic value of cardiac imaging in amyloidosis. World J Cardiol 2020;12:599-614. – reference: 16) Planté-Bordeneuve V, Carayol J, Ferreira A, et al. Genetic study of transthyretin amyloid neuropathies: carrier risks among French and Portuguese families. J Med Genet 2003;40:e120. |
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| Snippet | 非集積地の高齢発症遺伝性ATTRアミロイドーシスは，臨床症状が多様かつ非特異的で，家族歴も確認できないことが多いため，多くの場合診断までに長期間を要する．近年，本... |
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| Title | 日本の非集積地における高齢発症遺伝性ATTRアミロイドーシスの早期診断のための提言 |
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