Familial Amyloid Polyneuropathy Misdiagnosed as Systemic Sclerosis

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.

It is important to review diagnoses, especially when the clinical course is atypical.Cutaneous involvement is a commonly unrecognized feature of familial amyloid polyneuropathy.Hereditary conditions should be included in the differential diagnosis of multisystemic diseases, even in the absence of a family history.