Von Willebrand Disease Type 1: 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.

Type 1 patients are afflicted with a lower concentration of VWF in their bloodstream compared to healthy individuals (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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One thought on “Von Willebrand Disease Type 1: Another Disease Named After a 19-20th Century Scientist

  1. Edward Quach

    April 20, 2017 at 7:24am

    Hi Barry,

    Great intro to VWD.

    One stylistic point: starting out by essentially saying “Yeah everyone knows about the big one, hemophilia, but here’s something that matters too!” can instantly frame your disease of interest as somehow secondary in importance to hemophilia. A stronger start might indicate how many people have bleeding disorders, and then transition to how you’ll be talking about one in specific, VWD. Alternatively, you can also put in a fact about how many people suffer from VWD in the united states, and give a more comprehensive list of symptoms (abnormal bleeding, internal bleeding, bleeding into the gums, blood in urine, heavy menstrual flow, and with some of the more severe subtypes, there can be more lethal symptoms too!) This captures the reader.

    Another suggestion I would make is that speaking to specific VWF concentrations in the blood can be a bit distracting to include in a general overview. If you take out the sentence where you give the standard concentrations, that paragraph still makes perfect sense. Alternatively you can even put a sentence after “Diagnosis of this disease…criteria” which explains why there is controversy like “There is some disagreement over how much of a change in plasma VWF constitutes VWD”

    Lastly, I am glad you mentioned the many subtypes of VWD here, but you never go past mentioning that there’s anything other than type 1. If your project is only about type 1, then shouldn’t that be your disease, rather than “VWD” at large? When it comes down to it, as I’m sure you have found, the different subtypes can be vastly different in symptoms, severity, treatment, and underlying mechanism. The primary thing that ties them together is they have something to do with VWF, essentially!

    All in all, solid intro to the disease and I’m interested to read more.

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    • Author

      Barry Allen

      May 2, 2017 at 4:00pm

      Hi Edward!

      Thank you so much for your input! You’ve definitely given me a few things to think about regarding this introductory post.

      I completely see how with my current opening it can appear as if I create this hierarchical stance where I’m assigning importance of one over the other. The reason why I chose to word it in such in such a way was because prior to writing this post, I talked to a couple of people who I knew didn’t have a science background. As I was talking to them about this disease, I tried to gauge the most fundamental points they didn’t know that I felt could contribute to a greater overall understanding of VWD. One of the things that stood out was though they knew multiple bleeding disorders existed and yet they could only name hemophilia and more obscure ones that don’t affect that many people. So I felt it would be just a gentle opener that either brings it to a reader’s attention that there is more than one bleeding disorder or give them a reminder.

      I really like your second point. I tried not to overfill this post with too many specifics and keep it light and flowing and save the real details for the informational pages. I definitely will look at this and tweak this section. I appreciate the suggestions.

      Lastly you also bring up a good point. The project is about Type 1 VWD rather than other subtypes. I even entitled the infographic and menu button was “Von Willebrand Disease Type 1” so I feel I was a little inconsistent about what the focus should be so I’ll go back and straighten that up.

      Thank you so much for your comments and hope you enjoy the rest of the read.

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  2. Abby Lazofsky

    April 21, 2017 at 11:52am

    I really like that there are links to words and phrases within the reading itself. It makes it much easier to quickly define and understand terms that I may not be so familiar with.

    Continuing with this, there was one phrase that I felt should have an external link attached just to define. I’m not really sure what a gene locus is, but it seems like an important phrase to know as it is related to tracing the mutation.

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    • Author

      Barry Allen

      May 2, 2017 at 4:20pm

      Hey Abby!

      You know, that was on a list of things I meant to hyperlink, but it seems I missed that one (don’t worry, I fixed it now).

      All that a gene locus is the exact location on a chromosome where you can find a gene. You can think about it as the address for a particular gene. A chromosome has two arms, a “p” and a “q” arm. The locus tells you which arm you should be looking at and where on that arm you can find the gene.

      I hope I answered your question, but the Wikipedia page has a nice diagram and explanation if I’m not being super clear! (https://en.wikipedia.org/wiki/Locus_(genetics)). But thanks for asking and just comment if you have anymore questions.

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