Lino Angelina Maria Martins, Castelli Jussara Bianchi, Szor Roberta Shcolnik, Fernandes Fabio, Aiello Vera Demarchi
Universidade de São Paulo (USP), Hospital das Clínicas, Department of Neurology, Clinical Peripheral Nerve Group, São Paulo, SP, Brasil.
Universidade de São Paulo (USP), Instituto do Coração, Laboratory of Pathology, São Paulo, SP, Brasil.
Autops Case Rep. 2021 Jan 10;11:e2021326. doi: 10.4322/acr.2021.326. eCollection 2021.
Currently, there is growing evidence in the literature warning of misdiagnosis involving amyloidosis and chronic inflammatory demyelinating polyneuropathy (CIDP). Although inducing clinical manifestations outside the peripheral nervous system, light chain and transthyretin amyloidosis may initially present with peripheral neuropathy, which can be indistinguishable from CIDP, leading to a delay in the correct diagnosis. Besides, the precise identification of the amyloid subtype is often challenging. This case report exemplifies clinical and laboratory pitfalls in diagnosing amyloidosis and subtyping amyloid, exposing the patient to potentially harmful procedures.
目前,文献中越来越多的证据警告了涉及淀粉样变性和慢性炎症性脱髓鞘性多发性神经病(CIDP)的误诊情况。尽管轻链和转甲状腺素蛋白淀粉样变性在外周神经系统之外引发临床表现,但其最初可能表现为外周神经病变,这可能与CIDP难以区分,从而导致正确诊断的延迟。此外,淀粉样蛋白亚型的精确识别往往具有挑战性。本病例报告例证了诊断淀粉样变性和对淀粉样蛋白进行亚型分类时的临床和实验室陷阱,使患者面临潜在的有害操作。