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Recognize and treat von Willebrand’s disease
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Von Willebrand’s disease is the most common congenital bleeding disorder, but it is often the most difficult to diagnose.
“The disease is associated with major morbidity, lost work, lifestyle disruption, stress and increased health costs. Unfortunately, a diagnosis often is not made until there is postoperative bleeding, iron deficiency, anemia or a requirement for a transfusion,” Margaret Ragni, MD, professor of medicine in the division of hematology/oncology at the University of Pittsburgh, said at the 48th Annual Meeting of the American Society of Hematology.
Ragni said von Willebrand’s disease manifests symptomatically as menorrhagia, defined as more than 80 cc per month of blood loss, about 90% of the time.
Menorrhagia occurs in as many as 10% to 15% of individuals during their lifetime, and Ragni said it accounts for 15% of gynecology referrals and 300,000 hysterectomies annually. Of all women with menorrhagia, 5% to 20% will have an associated bleeding disorder. The most common bleeding disorder is von Willebrand’s disease.
Type 1 disease
Ragni said 65% of von Willebrand’s disease cases are type 1, or partial quantitative deficiency. Studies in twins have shown that 60% of type 1 von Willebrand’s disease is inherited and the ABO blood type accounts for about 30% of the necessary genetic variation to produce the disease.
“Severity can range from mild to severe, with mucosal bleeding being the standard finding, but we also see epistaxis, genital urinary bleeding, gastrointestinal bleeding, oral and certainly postsurgical bleeding,” Ragni said.
Menorrhagia is the most common symptom of von Willebrand’s disease in women, Ragni said.
Although 80 cc of blood loss is the generally accepted definition, Ragni said this is subjective and, unfortunately, symptoms of menorrhagia can vary.
“Bleeding symptoms may be atypical, lack specificity for von Willebrand’s disease and overlap what is seen in healthy individuals,” Ragni said.
Clinicians should take a bleeding history in all patients including age at first bleeding symptom. “First bleeding symptoms at a younger age more frequently suggests a congenital problem,” Ragni said.
The clinical history should also include frequency and severity, transfusion requirement, an indication of whether it is a spontaneous or a traumatic bleeding and whether family members have been affected.
Some studies have suggested that the best predictors of menorrhagia are clots greater than one inch in diameter, the need to change pads during menstruation more frequently than every hour or a low ferritin level.
Testing for von Willebrand’s disease is most optimally done at day one to day three of the menses. Fasting blood should be drawn and frozen at –40°C. At the time of testing, the sample should be thawed to room temperature.
“We generally recommend testing during three separate menstrual cycles, preferably within the first three days when von Willebrand’s factor levels are lowest. It is important to recognize that there are extragenic effects, such as estrogens and pregnancy, that may mask a diagnosis by increasing the von Willebrand’s factor level,” Ragni said.
When von Willebrand’s disease is identified, clinicians need to formulate a treatment plan.
“In the event that they should receive a transfusion immunizations should be given,” Ragni said. “We always like to make sure that they understand taking aspirin and nonsteroidal antiinflammatory drugs may actually increase their bleeding risk.”
Treatment can include hemostatic agents or estrogens, but Ragni said available pharmaceutical treatments are usually suboptimal. Many women with an underlying bleeding disorder do not just have menorrhagia, but other symptoms as well.
Any plan needs to include communication across specialties. The hematologist needs to communicate the presence of this disorder to any obstetrician/gynecologist, primary care provider or surgeon treating the patient.
“We need to ensure that the patient is not lost in the medical system and is believed when they say they have a bleeding disorder,” Ragni said. – by Jeremy Moore
For more information:
- Ragni MV. Bleeding disorders in premenopausal women: how the consulting hematologist can help. Presented at: 48th Annual Meeting of the American Society of Hematology; Dec. 9-12, 2006; Orlando, Fla.