It is rare autosomal recessive disease which is associated with severe bleeding episodes. It is also been seen in association with hepatic failure, inflammatory bowel disease and myeloid leukemia. It can be acquired or congenital.

Signs and symptoms

• Persistent bleeding from the umbilical stump of the umbilical cord.
• Soft tissue and subcutaneous bleeding
• Menorrhagia
• CNS hemorrhage
• Hemarthroses
• Recurrent spontaneous abortions in women
• Delayed wound healing

Diagnosis:

• Blood work up including activated partial thromboplastin time
• Immunological assays
• Coagulation screening tests
• Assessment of clot stability
• Genotyping

Treatment:

Plasma, cryoprecipitates and factor X111 concentrates are used for replacement