Varied Clinical Manifestation of Congenital Afibrinogenemia: From Thrombosis to Intramedullary Hemorrhage - A Case Series of 7 Patients

Dr. Shailesh H Bamborde, Dr. Farah Jijina, Dr. Chandrakala.S, Dr. Shrimati Shetty, Dr. Rajesh Patil, Dr. Nilesh Wasekar, Dr. Vinod Patil, Dr. Shruti Mantri

Abstract: Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by complete absence of detectable fibrinogen in circulation. There are about 250 cases reported in the world literature. Afibrinogenemia and hypofibrinogenemia represent the homozygous and heterozygous states, respectively, for mutations affecting plasma fibrinogen concentration. Here we report 7 cases with varied clinical manifestations at presentation. In our case series, 3 patients presented with bleeding symptoms, one patient with bleeding as well as thrombosis and one with recurrent abortions.

Keywords: afibrinogenemia, fibrinogen, thrombosis, bleeding, abortion