家族性淀粉样多发神经病(Familal amyloido-tic Polyneuropathy简称FAP)为遗传性全身性淀粉样贮积症,其特征为淀粉样纤维蛋白沉积于细胞外及外周神经受累。为常染色体显性遗传,外显率高,男女发病相等,于20～45岁发病。最初症状有腹泻、便秘、下肢感觉异常,自发疼痛、表面感觉迟钝,伴有肌肉萎缩及无力。病情逐渐恶化,10～20年后死亡。近年来FAP患者沉积物质的研究证明此物质为突变的前清蛋白(Proalbumin)。前清蛋白并非清蛋 Familial amyloido-tic polyneuropathy (FAP) is a hereditary systemic amyloidosis characterized by deposition of extracellular and peripheral nerve amyloid fibrils. For autosomal dominant inheritance, high penetrance, equal incidence of men and women in the 20 to 45-year-old onset. The initial symptoms of diarrhea, constipation, lower extremity sensory abnormalities, spontaneous pain, the surface feeling dull, accompanied by muscle atrophy and weakness. The condition deteriorated gradually and died 10 to 20 years later. In recent years, the deposition of FAP patients confirmed that this substance is a mutant Proalbumin. Prealbumin is not an egg