Rare bleeding disorder database

Posted by & filed under Part 19: BLOOD, Websites.

The primary aim of database is to determine the distribution of each rare bleeding disorder in the world, and their available treatments.

Please visit www.rbdd.org to participate in the database.

For more information on rare bleeding disorders, please visit OMMBID Part 19: Chapters 169 – 183.

Thank you very much in advance for your contributions to this blog.

Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

One Response to “Rare bleeding disorder database”

  1. pcampeau

    FORM CHAPTER 174:

    Chapter 174: Von Willebrand Disease

    Clinical Course

    For patients with a quantitative deficiency of VWF (VWD types 1 and 3) the severity of disease generally correlates with the degree of VWF functional deficiency, and may vary from clinically insignificant to life threatening. The severity of the disease in patients with qualitative disorders of VWF (VWD type 2) may exceed what might be expected based on the functional deficiency ascertained by laboratory tests.201,203,206,209 Symptoms are usually present from childhood, and often from birth.7,8,10,25 These commonly include easy bruising, cutaneous hematomas, epistaxis, bleeding from gums, and prolonged bleeding from cuts. Persistent severe bleeding after minor oral trauma and after dental extraction is common. Most affected women have menorrhagia that may require blood transfusion.169 Bleeding from a ruptured ovarian follicle or corpus luteum may also be severe.180,203 Gastrointestinal bleeding seems to be relatively rare but may be life threatening. Patients with VWD type 3 and essentially undetectable VWF can have factor VIII levels low enough to predispose to spontaneous hemarthrosis, joint deformities, and soft tissue bleeding.7,8,25 Milder forms of VWD are almost never associated with hemarthrosis. The bleeding tendency of VWD has been reported to decrease with advancing age,7,25 although this is not a uniform feature of the disease.

    During pregnancy the plasma VWF levels are increased in normal individuals and in patients with most forms of VWD other than VWD type 3.236-239 This increase is most marked in the third trimester. If the increase represents functional VWF, then labor and delivery are usually uncomplicated. Patients with dysfunctional VWF (VWD type 2) frequently have difficulty with hemorrhage during labor and delivery.201,206,219 Plasma VWF levels return to baseline within a few days, and patients with VWD should be watched closely during at least the first week after delivery for postpartum bleeding.

    Type 2B VWD can present special problems during pregnancy. The increased plasma concentration of abnormal VWF that is a consequence of the physiological stimulus of pregnancy can cause severe and prolonged thrombocytopenia, rarely with marked blood loss during delivery.240 Children born with VWD type 2B may present with congenital thrombocytopenia.217

    The development of alloantibodies to VWF is distinctly uncommon in VWD as reviewed elsewhere.241 All of the reported cases have occurred in patients with VWD type 3 with no detectable VWF-like protein. Among patients with VWD type 3, the prevalence of alloantibodies to VWF is about 7.5 percent. Not all severely affected patients develop antibodies, and there may be a familial predisposition to this complication of therapy. The apparent association between deletions within the VWF gene and the development of such antibodies was discussed above

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