In a recent article for Hemophilia News Today, Jennifer Lynne, who is diagnosed with both von Willebrand disease and hemophilia B, stresses the importance of remembering women can have hemophilia too.
Named after the Finnish physician, Erik von Willebrand, who first described the condition in 1925, von Willebrand disease (vWD) is a bleeding disorder that affects the blood’s ability to clot. Although there is no cure for vWD, treatment can control symptoms and help avoid problems. People with vWD may bleed excessively and/or for a longer period of time because their blood doesn’t have enough of a protein called von Willebrand factor (VWF), or that protein doesn’t function as it usually does. VWF serves two main functions, it:
- Acts as a glue to hold platelets together (in the form of a clot) to seal a hole in a blood vessel
- Carries the essential blood-clotting factor, called factor VIII, in the bloodstream
Because of this, people with vWD often bruise easily, have frequent, long-lasting nosebleeds, and experience abnormal bleeding following injury, surgery or dental work.
Von Willebrand disease is thought to be the most common genetic bleeding disorder. It’s estimated that 1 in 100 to 10,000 individuals have von Willebrand disease, which means it affects up to 1% of the general population. It occurs with equal frequency among males and females. Many people with vWD experience only mild symptoms, and researchers estimate that as many as 9 out of 10 people with vWD are undiagnosed.
In many cases, the symptoms of vWD are absent or so mild they aren’t recognized as symptoms. This can make diagnosing vWD very difficult. Abnormal bleeding is the most common symptom, and it may present as:
- Frequent, long-lasting and heavy nosebleeds that are hard to stop
- Bleeding from the gums
- Increased/longer menstrual flow
- Excessive bleeding from a cut or following a tooth extraction or other dental procedure
- Blood in stools or urine
- Long-lasting bleeding from shaving with a razor or other similarly minor injury
There are two basic types of hemophilia which include: the most common type, hemophilia A, also known as factor Vlll deficiency and hemophilia B, which is characterized by a deficiency in the factor IX gene. A genetically inherited disorder, hemophilia occurs because the blood lacks the ability to clot properly. As a result, people can experience bleeding (internally or externally) for extended periods, which can occur after surgery, an accident, or even following a more common procedures, like a tooth extraction. However, with severe hemophilia, some people bleed continuously after the slightest injury—or even without being injured, which is known as spontaneous bleeding. Without adequate amounts of factor in the blood, and if left untreated, serious complications can occur, affecting organs, the brain, muscles, and joints, which could potentially be fatal in some cases.
In rare cases of hemophilia B, people have bleeding episodes as children, then post-puberty, the number of episodes tends to lessen. This condition can be inherited from either parent depending on which factor gene is missing or mutated, but females are usually carriers; it’s males who are generally affected with hemophilia. If a female child has a father with hemophilia, the daughter will thus inherit the mutated gene.
Symptoms of hemophilia B vary in severity and bleeding is the primary symptom, but additional symptoms can include:
- Urinary or gastrointestinal tract bleeding as well as blood in the stool
- Unprovoked spontaneous bleeds
- Extended bleeds from any cuts and abrasions and surgeries
Lynne shares that most doctors she has been to are familiar with von Willebrand disease and don’t question her diagnosis. However, when it comes to her hemophilia B diagnosis, they automatically assume she is incorrect and confused. The belief that hemophilia does not occur in women is engrained in a good number of doctors’ minds, but Lynne is sharing that this can actually be a dangerous assumption.
In fact, Lynne has been forced to become an expert on her condition so that she can educate others and fight for proper care. She even wears a medical bracelet and carries a letter explaining her diagnosis with her just in case there’s an emergency.
A Radical Hysterectomy Gone Awry
In 2019, Lynne required a radical hysterectomy and hernia repair. This was a major surgery, and unfortunately Lynne faced many complications that were life-threatening. After going through the trauma of a surgery gone awry, she decided to look over her surgeon’s original plan for the surgery. In this plan, she discovered he had made the plan based on a male body, not a female body. This oversight is thought to have caused the complications.
Listen to Women Patients
It is extremely important to be listened to and labeled properly, Lynne stresses. Patients need a proper and accurate diagnosis in order to receive the correct care and treatment. She also states that the illustrations of hemophilia need to be updated to show how the disease looks in females, and they need to be specific.
Overall, Lynne is arguing for female patients to be listened to about their hemophilia diagnosis. Medical professionals need to stop assuming a woman is simply wrong about her diagnosis because it can be very harmful for getting the needed treatment. It should not take a life-threatening situation for a woman with hemophilia to be listened to.