By Amy Shapiro, M.D.
Many people, including healthcare providers, think that only men are affected with bleeding disorders. This is a common misconception. It is true that the most familiar forms of hemophilia are disorders that, in the majority, affect men. The most frequent forms of hemophilia – factor VIII and IX deficiency – are inherited differently than other bleeding disorders. However, many other bleeding disorders beyond factors VIII and IX deficiency exist (also called hemophilia A and B respectively), and these disorders affect both men and women. In fact, the most common bleeding disorder affecting approximately 1-2% of the population is called von Willebrand disease (vWD).
Von Willebrand disease is caused by a deficiency or abnormality in the von Willebrand factor (vWF). VWF is an important protein that helps the blood to clot. The impact of an abnormality in the vWF is abnormal bleeding. Unlike hemophilia A and B, the bleeding pattern in vWD usually occurs in the mucous membrane surfaces including:
· Epistaxis: nose bleeds
· Excessive bruising: bleeding into the soft tissues or skin
· Menorrhagia: excessive menstrual bleeding (heavy periods)
· Post-partum bleeding: bleeding at or shortly after childbirth
· Bleeding after dental or surgical procedures, and
· Gastrointestinal bleeding: bleeding from the digestive tract.
Many of the bleeding symptoms associated with a disorder, such as vWD, are common. For example, many people experience nosebleeds due a variety of unrelated problems. As a result, healthcare providers may find it difficult to determine who requires further testing. However, certain questions can help you sort through your symptoms and assist you in determining if you require specific testing. These questions require time and patience for both the patient and care provider – details of the types, duration, resulting problems (anemia, need for iron therapy), and required interventions (hospitalization, blood transfusion, etc.), including those that have been both successful and unsuccessful, must be determined. Talk to your health care provider and document your symptoms to assure your concerns are heard.
Testing for vWD is best performed by a physician with knowledge of these disorders and expertise in this area. The frequently employed coagulation tests, such as a bleeding time, an APTT or a PFT, are inaccurate and insufficient to diagnose vWD. In fact, the testing itself can be influenced by your state of health, level of anxiety, pregnancy, or medications. Therefore, laboratory testing alone is only one piece of the puzzle to determine the likelihood of having vWD. Many people with vWD may have laboratory tests that appear normal at certain times. Therefore, your detailed personal health history combined with a thorough family history, are critical. Repeat testing may often be needed – so be prepared. Some of the tests used to diagnose vWD include the vonWillebrand factor antigen, ristocetin cofactor activity, factor VIII activity, and multi-time analysis of the von Willebrand factor. To obtain the most accurate results, many of these tests must be performed in a specialized laboratory.
The good news is, that once diagnosed, treatments exist that can help decrease or prevent bleeding complications. Some of the medications available mimic the body’s “flight or fight” response – that response you get when you’re suddenly scared or startled. One result of this reaction is a release of substances that include vWF. These medications may not work for everyone or under every circumstance. Other medications, which contain vWF, may be needed to prevent or treat bleeding episodes. Medications, called adjunctive therapies, assist in prevention or treatment of bleeding episodes. These therapies work through a mechanism not specific to the particular bleeding disorder.
Carriers of hemophilia A and B may have clotting factor levels that place them in the mild range of deficiency and at risk for bleeding. Therefore, even women who carry hemophilia may exhibit bleeding symptoms. Other bleeding disorders also exist beyond vWD, and hemophilia A and B. These disorders tend to be less prevalent.
There are organizations that serve the bleeding disorder community which can provide you with more information, as well as health care providers in your area with expertise in this field. The National Hemophilia Foundation (NHF) has information available online at www.hemophilia.org and has a specific project dedicated to women with bleeding disorders called “Project Red Flag” (www.projectredflag.com). The Hemophilia Federation of America also has resources available online at www.hemophiliafed.org. The Center for Disease Control and Prevention (CDC) supports a regional network of centers dedicated to those with both bleeding and clotting disorders (www.cdc.gov/ncbddd/default.htm). There are other sites and resources available, but these should get your started on finding more information on bleeding disorders.
Dr. Amy Shapiro is a hematologist in Indianapolis, Indiana with the Hemophilia and Thrombosis Center at St. Vincent’s Hospital. She is also a faculty member of the I.U. School of Medicine. For further information you may contact Amy’s office at 317-338-7200.