Diagnosis and Management of Inherited Bleeding Disorders in Girls and Women with Personal and Family History of Bleeding

Inherited bleeding disorders are under-recognized as a cause of excessive uterine bleeding since uterine bleeding is expected during menstruation and with pregnancy. Approximately 40% of those who menstruate report heavy bleeding and at least half of those may have an inherited bleeding disorder, including 1% of the population who have subnormal von Willebrand levels.1,2 As many as 50% of girls and women who are carriers for hemophilia A or B have factor VIII or IX levels below 50% and are at risk for bleeding symptoms or heavy bleeding related to menstruation or pregnancy.3 Additionally, while low factor levels are generally associated with a higher risk of bleeding problems, abnormal bleeding symptoms may occur with normal factor levels in up to 70% of genetic carriers of hemophilia.

Establishing a diagnosis of an inherited bleeding disorder has important implications for prevention and management of bleeding, to improve quality of life and mental health, and facilitates obtaining recommendations for invasive procedures, pregnancy and delivery management, and family planning and testing. Additionally, screening for bleeding symptoms, even in the absence of a diagnosed bleeding disorder improves diagnosis and treatment of iron deficiency and may decrease the stigma of heavy menstrual bleeding.