A Case of Familial Amyloid Polyneuropathy

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J Korean Assoc EMG Electrodiagn Med 2003;5(2):102-105.
Published online May 10, 2003.

Abstract

Familial amyloid polyneuropathy (FAP) is an autosomal dominant inherited disorder that primarily affects the peripheral and autonomic nervous systems and usually becomes symptomatic in the third or fourth decade. We report 39 year-old male patient complaining of impotence and disturbance of bladder and gastrointestinal function manifested by incontinence and intractable diarrhea. His mother and three of his uncle showed similar clinical pictures. On autonomic function tests like three-positional blood pressure and heart rate variation test, and electrophysiological study, the patient showed autonomic dysfunction and diffuse sensorimotor polyneuropathy. Amyloid deposits are confirmed in the biopsy of the sural nerve with the light and polarizing microscope.

Key Words: Familial amyloid polyneuropathy, Andrade type, Intractable diarrhea

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