The Neuroendocrine System and Gastrointestinal Complications in Patients with Familial Amyloidosis and Polyneuropathy

Abstract

Familial amyloidosis with polyneuropathy type 1 is characterized by an amyloidogenic mutation in transthyretin in which valine is replaced by methionine in position 30 (1). The disease is an autosomal dominant form of amyloidosis with variable penetrance (2). Thus, whereas in northern Sweden (population, 500,000) 8000 individuals carry the trait, only about 150 of those have overt disease (3). Most cases of familial amyloidosis occur in Portugal, northern Sweden, and Japan (2,4,5). Sporadic cases have, however, been found in the UK, the USA, Ireland, China, Germany, France, and Greece (6-10).