A Case of Factor VII Deficiency with Normal Factor VII Antigen Level / 대한혈액학회지

ABSTRACT

Factor VII (FVII) deficiency is a rare hereditary disorder with a reduced FVIIC activity, which is transmitted by an autosomal recessive gene with variable expressions and a high penetrance. FVII deficiency has different antigen levels, normal or reduced, and has various symptoms. We report on a 26 year-old male patient with pleurisy who showed hematuria and prolonged prothrombin time. FVIIC was 4% and FVIIAg level was 80% (within normal range). The inheritance of this case is unclear. The FVIIC, FVIIAg, and prothrombin time of his father and mother's sister were within normal ranges. This is the first proven case of FVII deficiency with normal FVIIAg level in Korea.