Objective To study the clinical and genetic features of familiar amyloid polyneuropathy （FAP）. Methods Three families of suspected FAP in China mainland and Macau were investigated on aspects of clinical manifestations

histological features

and gene analysis. Results All 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. Conclusion FAP is an autosomal dominant inherited disease

with its clinical manifestations related to the type of genetic mutation.