Von Willebrand disease (vWD) is a common, inherited hemorrhagic disorder.
The laboratory studies have revealed that there is a deficiency or a qualitative defect of vWF in patients with vWD. The levels of vWF vary with physiologic stress. The plasma levels of vWF may be normal intermittently in patients with vWD; hence repeating the tests after more than 2 weeks becomes important in order to confirm abnormal results. Tests for vWD must be avoided during pregnancy, infections or strenuous exercise as the results may not be correct.
Treatment options for patients with vWD are as follows:
Though bleeding in most of the patient with vWD is manageable; there can be significant variability in the symptoms even among the family members. Patients with type II and type III vWD, the episodes of bleeding may be severe and life-threatening. Individuals with low levels of FVIII may also develop anthropathies .
vWD is an inherited disease due to the mutation of genes, except, for the rare acquired form which is caused by the antibodies to vWF. There are three categories of vWD:
The estimates suggest that clinically significant vWD is seen in 125 persons per million populations. Only about 0.5-5 persons per million populations are affected by the severe form of the disease.
Though both males and females have equal probability of having this disease, the phenotypic visibility is more among women owing to the menorrhagia. Since vWD is an inherited condition, the symptoms related to bleeding can occur even at a young age. Recent reports suggest that there is a decrease in the bleeding tendency as the patient age .
Chromosome 12 contains the vWF gene, which is located near the tip of the short arm of the said chromosome. This gene has 52 exons, similar to the size to FVIII gene. The expression of this gene is not allowed in the megakaryocytes, and endothelial cells. It is interesting to note here that there exists a pseudogene (partial, nonfunctional duplication of the gene 12) on chromosome 22.
Von Willebrand disease (vWD) is a hemorrhagic disorder. The disease is genetically inherited and is clinically heterogeneous in nature. vWD is caused by the deficiency or the dysfunction of a glycoprotein, von Willebrand factor (vWF). vWF is a large glycoprotein which is released from the storage granules located in platelets and endothelial cells in response to the stimuli. The interaction between defective protein and platelets and vessel wall causes primary hemostatis.
The primary functions of the protein are as follows:
Von Willebrand disease (vWD) is the most common genetic coagulation disorder caused by missing or defective von Willebrand factor (VWF), a clotting protein.
Patients must be informed about their condition so that they can avoid any situation that can aggravate their coagulation disorder. Patients are advised to avoid drugs containing aspirin. When undergoing any surgery or dental procedures, the patient must seek the opinion of a hematologist.