Rare Coagulation Factor Deficiencies: Diagnosis and Management

Abstract

Rare bleeding disorders are challenging because the experience of most physicians with these conditions is limited. Many of the milder disorders often go unrecognized for many years, and misdiagnosis results in inappropriate medical management. Rare bleeding disorders typically present with easy bruising, epistaxis, menorrhagia, hematoma formation after trivial trauma, and excessive bleeding following routine, minimally invasive procedures. Some patients with rare bleeding disorder might be aware of family members with unusual bleeding or bruising. The results of laboratory studies are often puzzling and are not consistent with common bleeding disorders such as hemophilia and von Willebrand disease. Arriving at the correct diagnosis generally requires a thorough knowledge of the coagulation pathways and the characteristics of the individual clotting factors. Genetic analysis to identify specific mutations can be very helpful, especially for recognizing asymptomatic family members.