Familial Amyloid Polyneuropathy Misdiagnosed as Systemic Sclerosis

Agostinho Pereira, Márcia and Monjardino Lobão, Madalena and Mesquita, António and Martins, Miguel and Ribeiro, Rita (2022) Familial Amyloid Polyneuropathy Misdiagnosed as Systemic Sclerosis. European Journal of Case Reports in Internal Medicine, 9 (1). pp. 1-3. ISSN 2284-2594

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We present the case of a 53-year-old woman of Portuguese ancestry with a diagnosis of progressive systemic sclerosis (SSc), proposed for haematopoietic stem cell transplantation (HSCT). Clinical re-evaluation when assessing eligibility for the procedure led to the alternative diagnosis of familial amyloid polyneuropathy (FAP). We discuss the clinical presentations of FAP and SSc, focusing on their overlapping and distinguishing features. We emphasize the need for a high level of suspicion in order to establish an early diagnosis of FAP in the absence of a family history, and provide prognostic and genetic counselling.

Item Type: Article
Uncontrolled Keywords: Hereditary, amyloidosis, transthyretin, scleroderma, polyneuropathy
Subjects: 600 Tecnologia - Scienze applicate > 610 Medicina e salute (Classificare qui la tecnologia dei servizi medici)
Depositing User: Marina Spanti
Date Deposited: 15 Mar 2022 16:57
Last Modified: 15 Mar 2022 16:57
URI: http://eprints.bice.rm.cnr.it/id/eprint/21686

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