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The challenges identifying and medically managing carrier women are, finally, “hot” topics -- for health care providers and families alike. We are increasingly aware of the variability in factor levels and symptoms. As discussed in an earlier newsletter, our HTC will be offering carrier women, between the ages of 12 and 40, the opportunity to undergo physical therapy evaluations and joint ultrasound examinations, because we now recognize that women with hemophilia may have unique joint issues.
But, women (including carriers) may have other bleeding disorders which can negatively impact their life and health. Since many of these are genetic, it is not uncommon for women to not seek medical attention because their heavy periods, or easy bruising, or nosebleeds “run in the family”, so that must be “normal”.
How many of our patient’s sisters/mothers/daughters/wives have been diagnosed with iron deficiency anemia, or “low iron”? It turns out that 15 – 25% of women with iron deficiency may actually have an undiagnosed bleeding disorder! And, not surprisingly, many health care providers --- internists, pediatricians, family medicine and OB/GYN practitioners -- are not aware of this implication of what is so often considered a “routine” female problem.
Bleeding disorders in women almost always affect what is called “reproductive bleeding” – menstruation, miscarriage and childbirth. It is logical (and easy) to “blame” iron deficiency on heavy menstrual flow , prescribe iron supplementation and move on. It is the responsibility of informed health care providers and patients/families to advocate for further investigations to determine whether or not an underlying bleeding tendency is more directly responsible.
What are the bleeding disorders which can affect women? Remember that the formation of a clot requires normal quantities of normally functioning platelets (the sticky pieces of cells which form the first fragile clot) AND a normal amount of functional clotting proteins. There are many proteins involved in clot formation besides VIII and IX.
The most common bleeding disorder in the world, affecting both men and women, is von Willebrand disease. People with vWD either make a less-than-normal amount of the von Willebrand protein, OR they make defective von Willebrand protein. People can be born unable to manufacture a normal amount of any clotting protein --- we have many patients who are deficient in clotting factor 1 (fibrinogen), 5, or 7, or 10, or 11.
Rather than offer a textbook listing of symptoms, specific treatments, etc., it is important for women to recognize the possible “warning signs” for excessive menstrual bleeding , so that the discussion for further workup can be had with her health care provider:
There are many possible explanations for women who are experiencing heavy periods, recurrent nosebleeds, easy bruising. However, it is absolutely necessary to include a possible underlying bleeding disorder in the list of potential diagnoses, and to include the hematologist – preferably at an HTC – in the evaluation process!
For Women Only...Sort of
by Joanna A. Davis, MD