A Genetically Caused Bleeding Disorder Affects Both Males and Females

By Kathy Hubbard

In 1924, a Finnish physician named Erik von Willebrand was consulted about a five-year-old girl named Hjordis suffering from a severe bleeding condition. Wikipedia explained that Hjordis was the ninth of eleven children.

“She experienced regular bleeding from the nose, lips, gums, and skin, as did six of her siblings. Three of her sisters had died due to the condition, and eight years later, Hjordis died due to menorrhagia (heavy menstrual bleeding),” Wikipedia says.

Von Willebrand discovered that this bleeding condition was evident in the three previous generations on both sides of Hjordis’ family, which led him to conclude that the disease was genetically caused.

“An analysis of the heredity involved led von Willebrand to assume the inheritance was dominant, in contrast to hemophilia, which was known to be a recessive disorder. The condition also differed from hemophilia in that it affected females at least as often as males,” they said.

The National Hemophilia Foundation names von Willebrand disease as the most common bleeding disorder in the U.S. It affects up to one percent of the population or approximately one in every hundred people. It affects men and women equally, but women may be more symptomatic due to heavy menstrual bleeding. It occurs across all races and ethnicities.

The symptoms include frequent nosebleeds lasting longer than ten minutes. And, by frequent, we’re talking about more than five a year. It also presents bleeding from cuts or injuries that lasts longer than ten minutes; bruising easily, with bruises raised and larger than a quarter.

Also in the primary symptom category is having low iron or being treated for anemia; heavy bleeding after any surgery, including dental surgery; having someone in your family with these symptoms; having a family member diagnosed with a bleeding disorder.

For women, besides heavy periods (having to change one pad or tampon every hour), they’ll have periods that last more than seven days. Women with von Willebrand will also experience heavy bleeding after childbirth or miscarriage.

The Centers for Disease Control and Prevention says that other common bleeding events include: blood in the stool from bleeding into the stomach or intestines, blood in the urine from seeping into the kidneys or bladder, bleeding into joints, or in severe cases, the internal organs.

What happens is that there are many different proteins needed to make our blood clot. “People with VWD are either missing or low in the clotting protein von Willebrand factor (VWF), or it doesn’t work as it’s supposed to. For a person to make a successful clot, VWF binds to factor VIII (8), another clotting protein, and platelets in blood vessel walls,” NHF explains.

“This process will help form a platelet plug during the clotting process. People with VWD cannot form this platelet plug, or it will take longer to form.”

There are three primary types of von Willebrand disease. Type 1 is the most common, found in 60 to 80 percent of patients. These people have low levels of VWF, and their symptoms are typically mild. Type 2 affects 15 to 30 percent of patients, and they have normal levels of the factor, but it doesn’t function as it should. Type 3 is the most severe, affecting five to ten percent of those with VWD. These people have very low or no VWF.

There is a fourth type called “acquired VWD.” This occurs in adults who’ve been diagnosed with an autoimmune disease, such as lupus. It can also be a result of heart disease or some types of cancer. Certain medications can cause VWD.

Diagnosis includes taking a personal and family history, checking for unusual bruising or other signs of recent bleeding, and blood tests to measure how the blood clots. The list of medications taken will be evaluated.

Healthline tells us that type 3 is the easiest to diagnose because symptoms will begin when a person is very young. Types 1 and 2 may present with symptoms so mild that they require no treatment. For more severe cases, there are proven treatments available. Your healthcare provider will determine which is right for you.

Kathy Hubbard is a member of the Bonner General Health Foundation Advisory Council. She can be reached at [email protected].