FAMILIAL AMYLOIDOTIC POLYNEUROPATHY - TTR-MET-30 IN MAJORCA (SPAIN)

We analyzed data from 78 Majorcan patients with familial amyloidotic p olyneuropathy (FAP): 57 confirmed and 21 non-confirmed. Diagnosis was established in the first group by histopathological study or defection of the biochemical marker in serum, and in the second was supported b y clinical information and family history. Eighteen confirmed patients were isolated cases and 39 had a family history of FAP Age of onset w as 46.7 years; later in males; predominance of males (72%) and late on set cases (65%). The TTR variant was Met 30 associated with haplotype I. Initial sensorimotor syndrome was present only in 55% of patients. Multiple progressive handicaps appeared. Duration averaged 10.5 years and was longer in males. Prevalence rare was 3.3 patients per 100,000 and asymptomatic carriers were 83. Twelve patients underwent liver tra nsplantation. Since 1989, the number of FAP families, patients, preval ence, isolated cases and municipalities with affected families was inc reased. One founder hypothesis is supported the mutation probably arri ved from Portugal, The Majorcan focus is the fifth largest in the worl d. Age of onset lies between that of Sweden and those of Portugal, Jap an and Brazil. Early diagnosis is very important for the possible indi cation of liver transplantation. FAP constitutes a public health probl em in Majorca.