A Case Report : Congenital factor VII deficiency
Abstract
Background : Congenital factor VII deficiency is an uncommon inherited bleeding disorder which can result in mild to severe hemorrhage in affected patients. The screening tests for factor VII deficiency are thrombin time (PT) and partial thromboplastin time (PTT). Among the inherited bleeding disorders, factor VII deficiency is the only disease which found to have prolonged PT and normal PTT. Factor VII assay is needed for definite diagnosis.
Objective : Herein is a old male newborn was referred to Srinagarind Hospital, Faculty of Medicine, Khon Kaen University, because of gum bleeding at the site of a natal tooth since 12 days of life. The PT was 25.3 seconds (normal 10.3-13.5 seconds) and PTT was 41.8 seconds (normal 28.3-44.5 seconds). In addition, substitution tests were performed and revealed factor VII deficiency. The patient was treated with factor VII replacement therapy with fresh frozen plasma (FFP). The patient was found to have a subdural hemorrhage which resolved in 6 days. During admission the bleeding was controlled by infusion with FFP (20 ml/kg) every 12 hours. He has been receiving prophylactic FFP transfusions every other day. Currently, he is 6 years and has been doing well with normal intelligence and development.
His elder sister was also found to have bleeding from the umbilical stump and frenulum when she was 6 days old. The coagulogram study revealed prolonged PT but normal PTT. She died at home at on month of age secondary to seizure and palor. The screening coagulogram of the parents was normal.
Conclusions : A case of congenital factor VII deficiency was reported. The routine coagulogram revealed prolonged PT but normal PTT. Substitution tests may be used initially to confirm the diagnosis. The treatment and prophylaxis of the hemorrhage is the factor replacement. The disease may be cured by bone marrow transplant. Genetic counseling is of particular importance. The disease may be diagnosed prenatally.
