Familial amyloid polyneuropathy: a clinical and biopsy report

The first case of familial amyloid polyneuropathy (FAP) in China is reported and the literature reviewed. FAP is an autosomal dominant inherited disorder that primarily affects the peripheral and autonomic nervous systems. The exact onset of the disease begins so insidiously. Because of the confusion with other neurologic disease, the diagnosis is often delayed until advanced stage. In this case, sural musculus and sural nerve biopsy confirmed the presence of amyloid. Both the patient's grandfather and his (or her) father have the like history of the disease. Colchicine or Dimethyl-Sulphoxide (DMSO) treatment may prevent the development of FAP. The prognosis is poor. Most deaths result from heart or renal failure.