This is a genotype with recommended actions if clinically confirmed. In brief:
- Von Willebrand disease (VWD) is a bleeding disorder due to either too little or abnormal plasma von Willebrand factor (VWF), a protein that mediates platelet adhesion and stabilizes coagulation factor VIII (FVIII). Mucocutaneous bleeding such as bruising, gum bleeding, nosebleeds, and heavy menstrual bleeding, as well as bleeding after dental extraction or from minor wounds, may occur.
- There are 3 types of VWD (type 1, 2 and 3) and each may be categorized into mild, moderate, and severe. Type 2 has 4 subtypes (2A, 2B, 2M and 2N). Mild type 1 may not be diagnosed until midlife; type 2 and especially type 3 are more commonly diagnosed early.
- There are three common treatment options: desmopressin, factor concentrates, and antifibrinolytic drugs. Affected individuals benefit from care in a comprehensive bleeding disorders program to manage their treatment.
- Pretreatment may be useful prior to surgery, dental work, pregnancy and labor, and other circumstances that can lead to bleeding.
- Individuals with VWD should wear or carry a medical alert bracelet or card, and should be vaccinated against hepatitis A and B (particularly those who may receive factor replacement therapy).
- Persons with VWD should avoid aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) as well as platelet-inhibiting drugs.
- Most VWD type 1 and most type 2A, type 2B, and type 2M are inherited in an autosomal dominant manner. VWD type 2N, type 3 and some type 2M and 2N are inherited in an autosomal recessive manner. Numerous other factors, including blood type, can influence how a given VWF mutation is expressed.
- If a VWD diagnosis is made, it is appropriate to test first degree relatives regardless of any bleeding history.
The full ClinGen Actionability report about the types of von Willebrand disease can be found here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.