Von Willebrand Disease: Another Disease Named After a 19-20th Century Scientist

Whereas hemophilia gets a good amount of attention for the problems it causes, it is not the only bleeding disorder. Von Willebrand Disease (VWD) was uncovered by physician Erik Adolf von Willebrand around 1925 (Lassila and Lindberg 2013). VWD is a disorder which causes abnormal bleeding because the protein von Willebrand Factor (VWF) is unable to adhere the platelets to the damaged vascular site and stop the bleeding. At the time, the disease was believed to have one form, but today it is sorted into three types. Type 1 VWD, which is the most prevalent form (O’Brien et al. 2003), either decreases the amount of VWF produced or elevates the rate of it being removed from the bloodstream (Sadler et al. 2006).

Not everything is known about how type 1 works, but it was found to be to be a hereditary condition following an incomplete penetrant inherited pattern. Most mutations found to be associated with the disease were traced back to the VWF gene locus. At first researchers, researchers believed that many type 1 VWD mutations were unknown, but now specific point mutations are able to be directly linked to certain disease characteristics.

Healthy people typically have a VWF concentration of about 0.50 IU mL-1 in their blood and type 1 patients have lower than 0.45 IU mL-1 (D. Lillicrap 2009). Diagnosis of this disease have been found to be controversial because not everyone follows the universally implemented criteria. Patients are supposed  to have a lower than normal VWF blood concentration, a childhood history of abnormal bleeding disorders, a family history of the disorder, and a mutation. Type 1 patients  conditions are usually the most mild compared to the other types, but in rare cases patients can be treated with desmopressin.  Other treatments have been implemented when necessary.

To learn more, please visit my Type 1 VWD Pages and share your thoughts below.

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