A rare bleeding disorder with an expensive factor defect

Abstract

A 14-day-old baby girl was admitted with fever, profuse bleeding from umbilicus, and encephalopathy. Neuroimaging showed intracranial bleed and coagulopathy remained uncorrected with fresh frozen plasma. Coagulation profile characteristically demonstrated prolonged prothrombin time, international normalized ratio, and normal activated partial thromboplastin time. Factor VII assay was done which showed very low levels of Factor VII. Factor VII deficiency or Alexander disease, an autosomal recessive disorder, is the most common among rare bleeding disorders with a global prevalence of 1/5, 00,000. Defect can be either quantitative or qualitative. Clinical manifestations range from severe to nonsevere. Severe forms manifest in newborns with intracranial bleed. It is the least common presentation. Recombinant Factor VII remains the most effective therapy but is currently unavailable and very expensive even for the affordable considering short half-life of 4–6 h. Prenatal diagnosis with genetic testing remains the only promising preventive strategy.