Perfetto Federico, Zampieri Mattia, Bandini Giulia, Fedi Roberto, Tarquini Roberto, Santi Raffaella, Novelli Luca, Allinovi Marco, Argirò Alessia, Cappelli Francesco
Tuscan Regional Amyloidosis Centre, Careggi University Hospital, 50134 Florence, Italy.
Department of Experimental and Clinical Medicine, Careggi University Hospital, 50134 Florence, Italy.
Biomedicines. 2022 Dec 12;10(12):3226. doi: 10.3390/biomedicines10123226.
Orthopaedic manifestations of wild-type transthyretin amyloidosis are frequent and characteristic, including idiopathic bilateral carpal tunnel syndrome, idiopathic lumbar canal stenosis, atraumatic rupture of the brachial biceps tendon, and, more rarely, finger disease and rotator cuff. These manifestations often coexisting in the same patient, frequently male and aged, steadily precede cardiac involvement inducing a rapidly progressive heart failure with preserved ejection fraction. Although transthyretin cardiac amyloidosis remains a cardiac relevant disease, these extracardiac localisation may increase diagnostic suspicion and allow for early diagnosis assuming the role of useful diagnostic red flags, especially in light of new therapeutic opportunities that can slow or stop the progression of the disease. For the cardiologist, the recognition of these extracardiac red flags is of considerable importance to reinforce an otherwise less emerging diagnostic suspicion. For orthopedists and rheumatologists, the presence in an old patient with or without clinical manifestations of cardiovascular disease, of an unexpected and inexplicable constellation of musculoskeletal symptoms, can represent a fundamental moment for an early diagnosis and treatment is improving a patient's outcome.
野生型转甲状腺素蛋白淀粉样变性的骨科表现常见且具有特征性，包括特发性双侧腕管综合征、特发性腰椎管狭窄、肱二头肌肌腱非创伤性断裂，以及较少见的手指疾病和肩袖损伤。这些表现常共存于同一患者，患者多为老年男性，在心脏受累导致射血分数保留的快速进行性心力衰竭之前就已出现。尽管转甲状腺素蛋白心脏淀粉样变性仍是一种与心脏相关的疾病，但这些心脏外定位可能会增加诊断怀疑，并在出现新的可减缓或阻止疾病进展的治疗机会时，作为有用的诊断警示标志发挥早期诊断的作用。对于心脏病专家而言，识别这些心脏外警示标志对于强化原本不太明显的诊断怀疑非常重要。对于骨科医生和风湿病学家来说，在患有或未患有心血管疾病临床表现的老年患者中，出现意外且无法解释的肌肉骨骼症状群，可能是早期诊断的关键时机，而早期诊断和治疗有助于改善患者的预后。
