[Congenital factor VII deficiency in a family in Mashhad: a case report]

ABSTRACT

Inherited factor VII deficiency is a rare autosomal recessive coagulation defect. The most prevalent bleeding symptoms in these patients are mucus membrane type bleeding, such as epistaxes. This study was done to report disease in a family due to its rarity and widely variant differential diagnosis. A 4.5 years old son was admitted with recurrent epistaxes. This symptom had been observed in his younger brother, too. Parents and his sisters were asymptomatic. Parents were causins. Laboratory finding in two symptomatic brothers consisted of increased PT [prothrombin time] with patient PT to control ratio greater than 2, and F VII coagulation level less than%1. In parents and one of their daughters, mild increase in PT and some decrease in F VII coagulation level in the range of% 50-60 was observed. The most prevalent symptoms in congenital FVII deficiency are mucus membrane bleeding, including epistaxes and menorrhgia. Patients with level of factor VII less than 1% of normal, usually present with severe clinical signs. The level of Factor VII in carriers [heterozygote] is 25-75% of normal, but in hemozygote state it is less than 25%. In our cases with hemozygote state, the only clinical sign was recurrent epistaxes but carriers had no sign. In hemozygote patients the level of factor VII was less than 1% and in heterozygote ones between%50-60