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Von Willebrand Disease

Updated: Sep 28, 2022

Von Willebrand disease (VWD) encompasses a group of inherited bleeding disorders related to qualitative or quantitative defects of von Willebrand factor (VWF), which is essential in hemostasis. In simple terms, von Willebrand disease is a common blood disorder that keeps your blood from clotting. It is inherited from your parents, and sadly, way too often goes unrecognized until disaster. In some cases, people have had bleeding issues for many years before they have a firm diagnosis.


Women often learn of it as they hemorrhage after the birth of their babies, or sadly, and too often in my experience, after several hemorrhages and their midwife runs tests on them that no prior physician has considered and then once diagnosed everyone gets to say she's now too high risk for this midwife (yet the only one capable of making the diagnosis apparently)... but I digress... Another way this can be fairly easy identified is when the little ones get frequent nose bleeds. This isn't the most common cause of frequent nose bleeds but should certainly be ruled out.



People with von Willebrand disease may bleed more than usual. These women may have heavier periods or more miscarriages than normal. Small cuts may bleed longer. Bruises may look raised, like a pool of blood under the skin. Those with much more serious disease may have bleeding in their joints or soft tissues. Others experience anemia. Von Willebrand is similar to hemophilia but typically causes less severe symptoms. While only 1 percent of people suffer with von Willebrand disease, it is the most common bleeding disorder in the United States.


This factor, the von Willebrand factor, is in your plasma, your platelets, and the walls of your blood vessels. The plasma is the liquid part of the blood and the platelets are the cells that help the blood clot when the blood vessels rupture from injury or damage. Normally, platelets stop the bleeding by sticking to the damaged blood vessels and helping to form clots. von Willebrand factor is the sticky part of this clot, so when you don't have sufficient supply or any at all, your platelets won't stick, making it more challenging for your platelets to create the necessary blood clots.


This is an autosomal dominant inheritance, so people who carry the mutated gene have a 50 percent chance of passing the genetic mutation on to their biological children. People may also develop von Willebrand disease as a complication from certain cancers, autoimmune disorders, or from various heart or blood vessel diseases, particularly those that cause shearing such as ventricular septal defects or aortic stenosis. Lupus for example, can create antibodies to von Willebrand factor and hypothyroidism can create decreased von Willebrand synthesis.


How do we Know if you have von Willebrand disease?


Clinicians are trained to look for clues in a client's history that suggest various pathologies for which they have trained to recognize. The great concern in our healthcare system - okay, one of the plethora of concerns - is that the primary care provider typically gets only six seconds to listen to your history, make a diagnosis, create a plan, and educate you on that plan. We miss things in this model, and most often go for the most obvious. We are trained to identify and prescribe, partly because that advances the wealth of the pharmaceutical companies who play a huge role in healthcare legislature, third party coverage, and even our own training programs.


Functional and integrative medicine is a bit different. I have been ridiculed by my colleagues because they claim I am incapable of completing a health history and exam in the time that most other practitioners do, but what they are capable of offering in their short visits doesn't equate to healthcare - that's a sickcare model. Our history visits are 60 to 90 minutes for new clients and most of the time, clients are a bit emotionally fatigued after this much time. It can be exhausting really digging into why you are in the state of health you are in today, and honestly, most of my clients haven't had anyone really listen to them before. Their stories just pour out and then when I start asking questions clients haven't really thought about before, it can be a bit overwhelming. We schedule the physical in a subsequent visit so that we can give it the attention it deserves, and this gives me opportunity to follow-up on points that we didn't have time to explore in the first visit. This then equates to two-to-three hours of history and physical - which equates to about 15 visits with a conventional provider, assuming you stick with the same one as you attempt to figure out why you feel the way you do.


Another aspect that isn't often considered is when you see clients down an assembly line like is often the standard in conventional medicine, you stick to your most common differentials. You have your typical management plans, and for everything else, you refer. Specialists then see the issue from their very narrow perspective. Functional medicine is systems medicine. We see the big picture and we can dig in and think outside the box because our practice model allows it.


When I am working with a client and I am getting a hint of von Willebrand disease, often it is because of anyone of the issues mentioned above, but also two or three miscarriages in a row or bruises that appear when the client can really remember how they occurred. We can run blood tests to evaluate your complete blood count, your red blood cells, and your hemoglobin, which often times are normal. We'll also look at your platelets and run tests to see how they stick together (platelet aggregation tests) and analyze other proteins that work to help your blood clot (APTT, PT, fibrinogen) and we can test for von Willebrand factor antigen directly, the ristocetin cofactor, and von Willebrand factor multimers. Several tests do need to be run to rule in or out this diagnosis because many things can change the way your tests present and throw us off to some degree. Hormones can change various results, even other comorbidities like hemochromatosis, and there's more than one type of von Willebrand disease.


Here's the thing though, there is no specific test that can diagnose von Willebrand disease because there are so many presentations or pathologic processes. This is a complex clinical scenario and certainly one manageable by the primary care provider, but it is important to be aware that the initial hemostasis panel may not detect VWD cases, and those with significant history may require a number of evaluations. Many factors change these results too, such as pregnancy, acute or chronic illness, and hormones, so this is an ongoing assessment alongside clinical presentation. Consulting with a subspecialist may be helpful, and especially so if any of these tests come back abnormal, as they can help guide further testing and referral decisions.


Understanding the Various Types of von Willebrand Disease


The most common type of von Willebrand disease affects about 60 to 80 percent of people with the disease. These people have low levels of von Willebrand factor in their blood (<100IU per dL is normal, but <50 is low), and many times don't have symptoms, but if they do, they are typically mild. A normal factor VIII level does not rule out von Willebrand disease.


The second type of von Willebrand generally presents with mild to moderate symptoms, as the von Willebrand factor doesn't work as it should. About 15 to 30 percent of people have this type. The third is the most severe form, and it's the rarest form, affecting about 5 to 10 percent of those with the disease. People with this third type of disease may have serious bleeding issues because they have very low von Willebrand factor levels or they don't have any von Willebrand factor in their bloodstream. Their Factor VIII levels may be as low as 1 to 9IU per dL.


How do we Treat von Willebrand disease?


Depending on severity, medications may be the safest approach. Desmopressin is a hormone that boosts the levels of von Willebrand factor in your bloodstream and is the most common treatment, but of course, my desire would also be to assure you understand your phase one and phase two detoxification process from an epigenetic perspective because this should be optimized so your hormones are optimized, but also gut health is important to assure you can manufacture sufficient hormones organically.


von Willebrand factor infusions is how individuals are often treated to stop bleeding episodes. This may occur prior to surgery, or if the disease is severe, they may require regular infusions. Antifibrinolytics help keep blood clots from breaking down so if you're having a dental procedure for example, this may be helpful, or if you're experiencing heavy periods. Interestingly, some birth control contraceptives can increase von Willebrand factor levels in your bloodstream because they offer additional estrogen. The Mirena is an alternative treatment.


Keep in mind that while we can treat von Willebrand disease and can even work to optimize your health to reduce its expression, this isn't one that can ultimately be cured. Again this is inherited, but optimizing your health can help reduce its expression. People with type one or type two may only need treatment when they are injured or need surgery, but those with type three disease may need ongoing medical treatment to manage bleeding. Contact sports may not be appropriate for these individuals, nor might the use of aspirin or ibuprofen. Vitamin E, fish oil and turmeric may also be important to avoid.


Heavy menses is common for these women, and endometrial ablation can reduce menstrual blood loss in six of seven women; however, some women will require hysterectomy to manage symptoms. Women with von Willebrand disease who experience a miscarriage should know that a D&C is not effective in controlling heavy menstrual bleeding. When pregnant, if factor VIII or VWF ristocetin cofactor (VWF:Rco) levels are less than 50IU per dL, or a history of severe bleeding is discovered, these women should be referred to a high risk specialist at a perinatal center in collaboration with a hemophilia treatment center. Keep in mind too, if desmopressin therapy is initiated during labor, this may cause fluid retention which is aggravated by the use of pitocin putting moms and babies at risk of hyponatremia and seizures, but also making breastfeeding much more challenging. NSAIDs may increase risk of postpartum hemorrhage, and because levels return to baseline about 21 days after delivery, these women are again at risk of postpartum hemorrhage during this time.


References

Yawn, B. P., Nichols, W. L., & Rick. M. E. (2009). Diagnosis and management of Von Willebrand Disease: Guidelines for Primary Care. Am Fam Physician, 80(11), 1261-1268.

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