Epidemiology of Familial Amyloid Polyneuropathy in Bulgaria

Methods Four mutations have been found in the country so far: Glu89Gln, Ser77Phe, Val30Met, Ser52Pro. Glu89Gln is the most frequent mutation affecting 48 different families. Selective genetic screening program is performed in the affected families. A total of 261 individuals belonging to affected families were examined. All individuals who took part in the screening program signed an informed consent for a voluntarily participation in the program. TTR-FAP mutations were found in 130 individuals: Glu89Gln – 107; Val30Met – 15; Ser77Phe – 5; Ser52Pro – 2; compound heterozygous carrier of two mutations: Glu89Gln and Val30Met – 1.