von Willebrand disease (VWD) is believed to be the most common bleeding disorder, affecting as many as 1% of the general population, yet is commonly left undiagnosed. Lifespan care is necessary, as prolonged uncontrolled bleeding can be life-threatening.

Within the fully insured US population, based on computer modeling, 35 000-387 000 individuals have symptomatic, undiagnosed VWD or similar bleeding disorders, according to the results published in 2020.

When a diagnosis of VWD is made, it’s often delayed—especially in women. According to the CDC, there is an average of 16 years between the onset of bleeding symptoms and a diagnosis of a bleeding disorder.

About von Willebrand Disease

VWD occurs equally in women and men, across all races and ethnicities. The heritable bleeding condition is named after Erik von Willebrand, the Finnish physician who initially described VWD in the 1920s. Individuals s with VWD have a problem with a clotting protein in their blood called von Willebrand factor (VWF).

For blood to properly clot, VWF needs to bind platelets to the walls of injured blood vessels to form a platelet plug and bind to factor VIII as well. In the absence of VWF (not enough or if it doesn’t work properly), the proper clot won’t form, or it won’t form quickly enough which can cause bleeding problems—primarily in mucous membranes or the skin.

VWD: Why Diagnosis is Missed, Delayed

Symptoms associated with VWD are common in the general population, which can make it challenging to identify bleeding symptoms as abnormal. Easy bruising, bleeding gums, nosebleeds and heavy periods can also appear normal to family members who unknowingly share the condition, and so they do not recognize these as possible signs of a bleeding disordes. Women reported an average of 6 bleeding symptoms before being diagnosed with VWD.

Type 1 VWD is the most common and is typically associated with milder symptoms. Diagnosis might require repeat testing—in fact, in the same CDC study of women with VWD, diagnosis required an average of 2 tests, with a range between 1 and 20 tests taken.

Von Willebrand factor (VWF) levels can fluctuate, leading to the need for repeat testing for confirmation of a type 1 diagnosis. Factors that may influence levels include:

• Exercise
• Inflammation
• Physical or emotional stress
• Use of birth control pills (hormonal therapy)
• Pregnancy

All of these circumstances can elevate VWF levels, masking the presence of the disorder.

VWD Signs and Symptoms

The most common VWD symptoms include:

• Abnormal or easy bruising (also known as ecchymosis or hematoma)
• Nosebleeds (more than 5 in one year, lasting longer than 10 minutes)
• Bleeding from injuries or cuts (lasting longer than 10 minutes)
• Being told the Individual is “low in iron” or having been treated for anemia
• Abnormal bleeding after surgery, including dental surgery
• Having a relative with one or more of these symptoms
• Having a relative who has been diagnosed with a bleeding disorder (such as VWD or hemophilia)
• For those who menstruate:
  • Excessive or prolonged menstrual bleeding (≥7 days and flooding or passing large clots with very frequent pad or tampon change) )—a critical issue that affects up to 95% of women with VWD
  • Bleeding between periods (also known as metrorrhagia)
  • Heavy bleeding or hemorrhage during or after childbirth

VWD and other inherited bleeding disorders should be considered when evaluating any woman seen for abnormal or excessive bleeding, according to the Medical and Scientific Advisory Council of the National Bleeding Disorders Foundation. Certain VWD symptoms occur during different life stages, and obstetrician/gynecologists, primary care providers, and ER and dental professionals should be aware of cardinal symptoms at their corresponding life stages, ie, during:

• early school ages, look for an unusual number of nosebleeds
• adolescence, look for heavy periods
• late teens and college years, look for heavy bleeding with removal of wisdom teeth
• childbearing years, look for heavy bleeding during or after childbirth
• mid- to older adulthood, look for bleeding after procedures such as colonoscopy

Because VWD is a genetic disorder, clinicians should screen the entire family once a member is diagnosed—even if they claim to be asymptomatic, and not all individuals exhibit the same symptoms.

VWD Care Across the Lifespan

Uncontrolled bleeding in individuals with VWD can be life-threatening. Proper hematology consults are needed for pre- and post-surgery planning—even for simple procedures. Further, care during travel, dental visits, pregnancy and childbirth, and all surgical and medical procedures (ie, colonoscopies) should be coordinated under hematology guidance.

The best specialty center to provide lifespan care is a comprehensive hemophilia treatment center (HTC). Hemophilia and other bleeding disorders can cause chronic health problems. HTCs bring together providers experienced in the treatment of people with hemophilia and other bleeding disorders like VWD. Hematologists, advanced practice providers, nursing, physical therapy, social work, mental health, and more are available at an HTC, making it convenient to care for the whole patient in one location.

Charles Nakar, MD, is a pediatric hematologist-oncologist at Innovative Hematology/ Indiana Hemophilia & Thrombosis Center (IHTC), in Indianapolis, Indiana, the state’s only HTC. IHTC is recognized among the nation’s top research and clinical practices, with nationally- and internationally-known practitioners representing a wide range of specialties. The center’s comprehensive model of care ensures continuity of care across the lifespan, as the IHTC team guides individuals and families through life events, leveraging routine partnerships with outside medical providers.