OBJECTIVETo study the clinical and genetic features of familiar amyloid polyneuropathy (FAP).

METHODSThree families of suspected FAP in China mainland and Macau were investigated on aspects of clinical manifestations, histological features, and gene analysis.

RESULTSAll the 3 families had the clinical features of sensory and motor polyneuropathies, and notable vegetative nerve involvements. Affected cases of one family had ultrasound proved cardiomyopathy. Histological studies showed amyloid deposition in all the biopsy tissues of the affected cases of the 3 families, and anti-transthyretin antisera staining was positive in 3 cases of one family. Gene analysis confirmed that mutation types were amyloidogenic transthyretin (ATTR) Val30Met, Phe33Val, and Gly67Glu in the 3 families respectively. The ATTR Gly67Glu family had a shorter survival time due to the heart involvement compared with the other 2 families.

CONCLUSIONFAP is an autosomal dominant inherited disease, with its clinical manifestations related to the type of genetic mutation.

Adult ; Amyloid Neuropathies, Familial ; genetics ; pathology ; China ; DNA Mutational Analysis ; Female ; Genetic Predisposition to Disease ; Humans ; Male ; Middle Aged ; Mutation ; Pedigree ; Phenotype ; Prealbumin ; genetics