Department of Neurology, French National Reference Centre for Familial Amyloidotic Polyneuropathy, CHU Bicêtre, Université Paris-Saclay APHP, INSERM U1195, 94276, Le Kremlin-Bicêtre, France.
Department of Neurology, Graduate School of Medical Sciences, Kumamoto, Japan.
J Neurol. 2021 Jun;268(6):2109-2122. doi: 10.1007/s00415-019-09688-0. Epub 2020 Jan 6.
Amyloid transthyretin (ATTR) amyloidosis with polyneuropathy (PN) is a progressive, debilitating, systemic disease wherein transthyretin protein misfolds to form amyloid, which is deposited in the endoneurium. ATTR amyloidosis with PN is the most serious hereditary polyneuropathy of adult onset. It arises from a hereditary mutation in the TTR gene and may involve the heart as well as other organs. It is critical to identify and diagnose the disease earlier because treatments are available to help slow the progression of neuropathy. Early diagnosis is complicated, however, because presentation may vary and family history is not always known. Symptoms may be mistakenly attributed to other diseases such as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), idiopathic axonal polyneuropathy, lumbar spinal stenosis, and, more rarely, diabetic neuropathy and AL amyloidosis. In endemic countries (e.g., Portugal, Japan, Sweden, Brazil), ATTR amyloidosis with PN should be suspected in any patient who has length-dependent small-fiber PN with autonomic dysfunction and a family history of ATTR amyloidosis, unexplained weight loss, heart rhythm disorders, vitreous opacities, or renal abnormalities. In nonendemic countries, the disease may present as idiopathic rapidly progressive sensory motor axonal neuropathy or atypical CIDP with any of the above symptoms or with bilateral carpal tunnel syndrome, gait disorders, or cardiac hypertrophy. Diagnosis should include DNA testing, biopsy, and amyloid typing. Patients should be followed up every 6-12 months, depending on the severity of the disease and response to therapy. This review outlines detailed recommendations to improve the diagnosis of ATTR amyloidosis with PN.
转甲状腺素蛋白淀粉样变多发性神经病（ATTR-PN）是一种进行性、使人虚弱的系统性疾病，其中转甲状腺素蛋白错误折叠形成淀粉样物质，沉积在内神经。ATTR-PN 是最严重的成人遗传性多发性神经病。它是由 TTR 基因突变引起的，可能涉及心脏和其他器官。早期识别和诊断该疾病至关重要，因为有治疗方法可以帮助减缓神经病的进展。然而，早期诊断很复杂，因为表现可能不同，家族史也不总是已知。症状可能会被误认为其他疾病，如慢性炎症性脱髓鞘性多发性神经根神经病（CIDP）、特发性轴索性多发性神经病、腰椎椎管狭窄症，以及更罕见的糖尿病性神经病和 AL 淀粉样变性。在流行国家（如葡萄牙、日本、瑞典、巴西），任何有长度依赖性小纤维神经病伴自主神经功能障碍和转甲状腺素蛋白淀粉样变性家族史、不明原因体重减轻、心律紊乱、玻璃体混浊或肾脏异常的患者，均应怀疑患有 ATTR-PN。在非流行国家，该疾病可能表现为特发性快速进展性感觉运动轴索性神经病或非典型 CIDP，伴有上述任何症状或双侧腕管综合征、步态障碍或心脏肥大。诊断应包括 DNA 检测、活检和淀粉样蛋白分型。根据疾病的严重程度和对治疗的反应，患者应每 6-12 个月随访一次。这篇综述概述了详细的建议，以改善 ATTR-PN 的诊断。
