The answer is ‘yes,’ which is why World Hemophilia Day 2017 is raising awareness of the many women with bleeding disorders who often go overlooked and undiagnosed.
By Jerry Powell, MD
April 13, 2017
No other genetic disease has made as much progress as hemophilia over the past half century. The typical life expectancy for boys born with severe hemophilia has increased from approximately 20 years to near normal life expectancy. One reason for this tremendous progress has been the involvement of patients and their families in supporting research and development (R&D) and participation in clinical trials, which has brought new innovative treatments to market.
Yet, while R&D has led to extended half-life products and the promise of higher factor levels and longer dosing intervals for boys and men with severe hemophilia, many women live with their symptoms for years without being diagnosed or even suspecting they have a bleeding disorder. This is due in part to the traditional focus on severe hemophilia only, but now it is time to add attention to the women who carry the hemophilia gene and have bleeding symptoms.
Carriers can and do experience symptoms
Many women live with their symptoms for years without being diagnosed or even suspecting they have a bleeding disorder.
Many women who carry the hemophilia gene experience symptoms, and often go undiagnosed for as many as 16 years. We are starting to develop a better understanding of how and why women are affected. But the challenge for symptomatic carriers to get a proper and early diagnosis remains. For every boy with hemophilia, there is a mom and possibly a sister or aunt who is potentially at risk for bleeding symptoms.
“Normal” bleeding may not be normal
In families where the females experience heavy bleeding during menstruation, it is often taken for granted as “normal,” which is how they typically describe their bleeding to a doctor. It’s therefore important for physicians to probe further when a patient says she has “normal” bleeding, and ask more detailed questions, i.e., how many days does the bleeding last, etc. One person’s view of normal bleeding may not be normal at all. We need to do a better job of identifying families with a history of abnormal bleeding and educating them to seek a diagnosis and appropriate treatment.
Another common view that needs to be corrected is that heavier than normal bleeding during menstruation is an inconvenience, rather than an important health issue. Nothing could be further from the truth. Girls with an undiagnosed bleeding disorder are often iron deficient, which can have an adverse impact on their performance in school, sports and other areas of their lives. And iron deficiency isn’t obvious unless you’re looking for it. Women with an undiagnosed bleeding disorder are at risk for postpartum hemorrhage or internal bleeding from a ruptured ovarian cyst, and problems with bleeding during and after dental procedures.
One person’s view of normal bleeding may not be normal at all.
All of which adds up to the need for more education amongst the medical community, particularly among emergency room doctors, gynecologists and obstetricians, and a greater understanding of the toll that an undiagnosed bleeding disorder can take on a person’s health and quality of life. The World Federation of Hemophilia is taking the added step of encouraging hemophilia treatment centers to focus on setting up a special clinic for women and girls with bleeding disorders.
Dr. Powell is a hematologist and CSL Behring’s Medical Director for coagulation therapies in the U.S.