Presentations of transthyretin associated familial amyloid polyneuropathy in Argentina

MARCELO CHAVEZ; MARIELA BETTINI; SEBASTIAN MARCIANO; SOLEDAD SÁEZ; EDGARDO CRISTIANO; MARCELO RUGIERO

MEDICINA (BUENOS AIRES)

MEDICINA (BUENOS AIRES)

Año: 2016 p. 105 - 108

0025-7680

Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is a hereditary disease with variable geographical distribution. The aim of this study was to present our experience with TTR-FAP patients. We retrospectively analyzed nine cases belonging to different families. Diagnostic criteria were based on the combination of compatible clinical picture, histopathological findings and genetic confirmation. Five cases showed the classic presentation and other 4 the late onset variant. The p.Val30Met mutation in the TTR gene was found in 6 cases and p.Ala36Pro, p.Thr60Ala and p.Tyr114Cys in the remaining 3, respectively. The median age of symptom onset was 35 years (26-60 range). Mean time to diagnosis was 4.2 ± 1.5 years. Our patient series showed the heterogeneity in clinical presentation of TTR-FAP in a non-endemic region of South America.