LAUSR

Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a rare autosomal dominant disorder induced by the deposition of the mutated TTR protein as amyloid fibrils. It is a multisystemic disorder affecting several organs including but not limited to peripheral nerves, heart, kidneys and eyes. Although it is well known in endemic countries like Portugal, Japan and Sweden sporadic cases have been defined all over the world. The age of onset varies across different populations and can be as early as the second and as late as the ninth decades of life. Likewise the phenotypes are not uniform, even the most common mutation Val30Met can present with different phenotypes. The most common clinical signs and symptoms are peripheral neuropathy associated with orthostatic hypotension, urinary incontinence, erectile dysfunction, diarrhoea and constipation, carpal tunnel syndrome, cardiac and renal involvement. As a result the phenotypic heterogeneity and limited awareness among physicians especially in non-endemic areas make the diagnosis challenging.