Many women with hemophilia face heavy symptoms and care gaps
New review highlights ongoing challenges in diagnosis, treatment
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- Many women and girls with hemophilia experience heavy menstrual periods, abnormal bleeding, and mental health challenges, a study found.
- Still, a diagnosis of the bleeding disorder in females is often delayed due to clinical bias and women trivializing their symptoms, according to the researchers.
- More research and expanded care, possibly leveraging existing resources for men, are needed for women and girls with hemophilia, the review concluded.
Although it’s often mistakenly thought of as a male disease, hemophilia affects a substantial number of women and girls, manifesting with symptoms that can include heavy menstrual periods and mental health challenges.
That’s according to a new review paper that examined “each stage of the process” for female patients in getting appropriate care for the bleeding disorder.
Recognition of hemophilia in female patients has improved in recent years, the researchers found, but the team noted that there are still substantial challenges to getting accurate diagnoses and appropriate treatment. The review’s findings highlight the “barriers faced by women and girls” at every step in the quest for care, the team wrote.
While “efforts to research [the condition in women and girls] have increased … gaps remain,” the researchers wrote. “Ongoing collaboration among researchers, policymakers, multidisciplinary medical professionals, and, most importantly, [women and girls with hemophilia] is essential to ensure optimal health outcomes.”
Their paper, “Symptoms, Diagnosis, and Treatment for Women and Girls With Hemophilia: A Narrative Review,” was published in the journal Haemophilia.
Hemophilia is a bleeding disorder that’s mainly caused by mutations that reduce the activity of proteins that help blood to clot. Specifically, hemophilia A results from mutations in the gene encoding clotting factor VIII. Hemophilia B is due to mutations in the gene encoding clotting factor IX. Both of these genes are located on the X chromosome, one of the two sex-determining chromosomes.
Because males typically have one X and one Y chromosome while females have two X chromosomes, hemophilia primarily affects men and boys. In females, a second healthy copy of the affected gene can partially compensate for a hemophilia-causing mutation.
Over 35% of female hemophilia patients experience abnormal bleeding
However, women and girls who carry a hemophilia-causing gene mutation may still experience symptoms of hemophilia, the new review highlights. In fact, more than a third (37%) of female patients with these mutations experience abnormal bleeding, usually tied to their menstrual cycle.
One of the most common symptoms in women with hemophilia is unusually heavy menstrual bleeding. Other kinds of abnormal gynecological bleeding, such as heavy bleeding related to pregnancy and childbirth, can also occur, the team noted.
And just like males with the disease, women and girls with hemophilia can also experience non-gynecological bleeds, including bleeding into joints and abnormal blood loss related to surgery, the research showed.
Beyond bleeding, mental health problems can also affect women and girls with hemophilia, according to the researchers. In fact, even though male patients usually have more severe disease in terms of bleeding, studies suggest that women and girls with hemophilia are more likely to report anxiety, depression, and/or substantial fatigue.
In their review, the researchers stressed that female patients’ experiences with hemophilia have generally received less attention from scientists than men’s, so there’s a continual need for more research.
The scientists also highlighted that, despite advances in recognition, female patients with hemophilia are still less likely to be accurately diagnosed. This historically was due, in part, to clinical bias, because hemophilia is often mistakenly viewed as a disease that only affects men.
But available research also suggests that women with hemophilia are often less likely to seek care: They “often tend to trivialize their bleeding and do not vocalize it, which is a cause of underdiagnosis,” the researchers wrote.
Several factors may contribute to this tendency toward trivialization and silence, the team noted. Female hemophilia patients often have male relatives with the disease who experience more severe bleeding, so women may feel their own symptoms aren’t significant enough to warrant care — even though data suggest they are.
Women also tend to play caregiver roles in family units, which can make it hard to prioritize their own care, the researchers noted. Additionally, the fact that hemophilia in female patients often manifests in part through menstrual symptoms can make discussing the condition more difficult due to societal stigma, per the team.
‘Very few’ guidelines address care for women and girls with hemophilia
The researchers noted that there’s an array of treatments that can be used by women and girls with hemophilia. Still, because female patients are often not included in hemophilia research, there are a lot of unanswered questions about how to choose the best one, the team noted.
“A wide variety of treatment options may be available to [women and girls with hemophilia], though there are very few clinical practice guidelines that adequately address this population,” the researchers said.
Additional work is needed to mitigate the existing barriers to care [for women and girls with hemophilia].
The scientists highlighted that in many countries, there are already systems in place — including care clinics and patient support groups — for people with hemophilia. While these resources are mostly geared toward male patients, with deliberate efforts, it is possible for these resources to be expanded so they can also help women and girls with hemophilia, the team noted.
“Changes in guidelines and norms could leverage these existing, well-developed structures to provide care for [women and girls with hemophilia] with identified symptoms,” the team wrote, noting that “additional work is needed to mitigate the existing barriers to care.”
The researchers added: “Providing materials and support navigating through family and caregiving support groups on recognizing key signs and symptoms and knowing when to seek help themselves could be crucial in helping individuals feel more informed, supported, and less isolated.”
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