Historically, how have doctors diagnosed and treated women and girls with bleeding disorders? What’s changed?
When I first started out, it was difficult to get adequate funding for research in women and girls with bleeding disorders. For the longest time, many providers and the bleeding disorders community didn’t appreciate the bleeding tendencies of women with bleeding disorders, including reproductive tract bleeding — bleeding related to delivery after a child and heavy menstrual bleeding. That's changed in the last 10 to 15 years, through a concerted effort by patient advocacy organizations such as the NHF and HFA, and through support of sound clinical research — that's really what moves things forward.
What’s an area that needs attention?
We know that up to 70-80% of women with bleeding disorders, including hemophilia carriers, experience heavy menstrual bleeding, which can lead to poor quality of life, iron deficiency, anemia, and potentially the need for blood transfusions.
I think a collaborative effort between hematologists, gynecologists, primary care, and emergency room physicians is needed to identify and manage these patients. We know that the most common bleeding symptom leading to a diagnosis of a bleeding disorder is heavy menstrual bleeding, but it currently takes anywhere from 2-15 years from bleeding symptom to diagnosis, and that’s not acceptable. There are existing tools that we need to package better to allow our colleagues to look for common bleeding symptoms and consider a bleeding disorder as the cause.
What’s something you were surprised to learn as you explored the needs of this population?
I was surprised by the fact that there were some excellent articles published years ago that demonstrated an increased bleeding tendency in carriers, such as Plug’s Blood article published in 2006 and Mauser-Bunschoten’s WFH publication in 2008. I was also surprised that many providers discounted the evidence presented in these articles, and felt that the women must not have understood the questions on the survey, and that they had over-reported bleeding as a result. The premise of this seems ridiculous — if there’s any population that's going to understand bleeding, it's going to be the mothers of children with hemophilia.
What’s your message to women and girls who may be a carrier of the hemophilia gene? How can they best get appropriate treatment?
As a young attending physician, I remember mothers telling me about past joint bleeds or heavy menstrual bleeding that was related to their carrier status. Initially, I was surprised, but I was willing to take a closer look at the research. I don’t think I’m unique in my ability to examine what I know and don’t know, and other providers that may be skeptical of the findings can be convinced by data presented at meetings and from talking to providers conducting research in this field.
My advice is to continue to advocate. There are existing tools people can use to advocate for themselves, such as paper and electronic bleeding logs and bleeding score calculators, including smart phone apps (such as MicroHealth Hemophilia) that can allow you to take pictures of bleeding events and link them to the specific day when you reported the bleeding.
These tools can make a provider’s job a lot easier, and allows us to spend more time on the diagnosis and less time on the documentation. I also think it's important that you find the right provider, and to seek out second opinions if you feel you’re not being heard.
What is your vision for the future? How do you want to see this field evolve?
I want to see this become a crowded field with researchers who are interested in adolescent girls and women with bleeding disorders. More participation allows us to brainstorm different research ideas, and I'm hopeful that in the next 10 years, we will be applying these ideas to pilot studies and eventually conducting larger, multi-institution trials. I'm very happy to see that in initiatives like My Life, Our Future, the carrier group participation is growing exponentially, and will provide important data to continue to push the field forward.
I'm also hopeful that we will soon be able to predict which patients will bleed more than others, in order to provide better care.