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遗传性蛋白 C 缺乏症(HPCD)是一种常染色体显性遗传性疾病。临床上纯合子型婴儿常表现为新生儿期暴发性致死性全身静脉血栓形成,杂合子型成人则表现为年轻起病的复发性静脉血栓形成。血浆 PC:Ag 降低和 PC:C<70%有确诊价值。本病应与继发性 PC 缺乏症和其他遗传性凝血因子异常作鉴别。治疗可用香豆素类、肝素和同化类固醇激素。
Hereditary protein C deficiency (HPCD) is an autosomal dominant genetic disorder. Clinically normal homozygous infants often show fulminant systemic thrombosis in the neonatal period, heterozygous adults showed a younger onset of recurrent venous thrombosis. Plasma PC: Ag reduction and PC: C <70% have a definitive value. The disease should be secondary to PC deficiency and other hereditary clotting factor abnormalities identified. Coumarins available for treatment, heparin and assimilation of steroids.