People with severe forms of VWD, particularly type 3 VWD, may also have other bleeding problems similar to haemophilia, such as:. The types of symptoms a person with VWD experiences can change over their lifetime.
Hemophilia and von Willebrand Disease: Similar, yet Different
For example, they may have nosebleeds and easy bruising as a child and find this occurs less often as they grow older. However, their type of VWD will not change. Women are more likely to show symptoms of VWD than men. Without treatment, women with VWD often bleed more or for longer than normal with menstruation their period.
Some women with VWD also have heavy bleeding a few days or weeks after giving birth and some have a lot of period pain or irregular periods. However, these symptoms are not always related to VWD and may have other causes. An assessment by a gynaecologist is an important part of understanding and treating these symptoms effectively. Von Willebrand disease is mostly a genetic disorder. This means it is passed down through the genes from parent to child. The altered gene in von Willebrand disease is on one of the regular chromosomes autosomal , not on one of the sex chromosomes like haemophilia.
This means that, unlike haemophilia which affects more males, von Willebrand disease affects males and females in equal numbers. They or their children may or may not have symptoms. If one member of a family is diagnosed with VWD, the doctor may recommend testing other members to see whether they have VWD as well.
However, if they have a severe form of VWD, they will usually have major bleeding problems as a baby or small child and will often be diagnosed within their first year of life. Understanding the laboratory test results is complex and needs to be done by a haematologist specialist doctor and laboratory with experience in VWD.
People with type O blood often have lower levels of VWF. If you think you have a bleeding problem, it is important to see a haematologist who specialises in bleeding disorders. In Australia, these haematologists can be found at Haemophilia Centres or Services which are at some major hospitals. Talk to your general practitioner or your gynaecologist about a referral.
Specialist Haemophilia Centres or Services have a team of health professionals with expertise in providing treatment and care to people with bleeding disorders including VWD. Usually people with mild VWD will only need treatment if they have surgery, dental work or an accident or injury.
If people do need treatment at times, there are several treatments available. The haematologist will consider all of this when they work with the person to decide the best treatment option. The vWF is qualitatively normal and genetic testing of the von Willebrand gene and vWF protein reveals no mutational alteration. The defect lies in the qualitatively altered GPIb receptor on the platelet membrane which increases its affinity to bind to the vWF.
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Large platelet aggregates and high molecular weight vWF multimers are removed from the circulation resulting in thrombocytopenia and diminished or absent large vWF multimers. Acquired vWD can occur in patients with autoantibodies. In this case, the function of vWF is not inhibited, but the vWF-antibody complex is rapidly cleared from the circulation. A form of vWD occurs in patients with aortic valve stenosis , leading to gastrointestinal bleeding Heyde's syndrome. This form of acquired vWD may be more prevalent than is presently thought.
Hemophilia and von Willebrand Disease: Similar, yet Different
In , Vincentelli et al. For patients with vWD type 1 and vWD type 2A, desmopressin is available as different preparations, recommended for use in cases of minor trauma, or in preparation for dental or minor surgical procedures. Desmopressin stimulates the release of vWF from the Weibel-Palade bodies of endothelial cells , thereby increasing the levels of vWF as well as coagulant factor VIII three- to five-fold. Desmopressin is also available as a preparation for intranasal administration Stimate and as a preparation for intravenous administration. Desmopressin is contraindicated in vWD type 2b because of the risk of aggravated thrombocytopenia and thrombotic complications.
It is totally ineffective in vWD type 3. For women with heavy menstrual bleeding, estrogen-containing oral contraceptive medications are effective in reducing the frequency and duration of the menstrual periods. Estrogen and progesterone compounds available for use in the correction of menorrhagia are ethinylestradiol and levonorgestrel Levona, Nordette, Lutera, Trivora. Administration of ethinylestradiol diminishes the secretion of luteinizing hormone and follicle-stimulating hormone from the pituitary, leading to stabilization of the endometrial surface of the uterus.
Desmopressin is a synthetic analog of the natural antidiuretic hormone vasopressin. Its overuse can lead to water retention and dilutional hyponatremia with consequent convulsion. For patients with vWD scheduled for surgery and cases of vWD disease complicated by clinically significant hemorrhage, human-derived medium purity factor VIII concentrates, which also contain von Willebrand factors, are available for prophylaxis and treatment. Administration of the latter is also associated with increased risk of venous thromboembolic complications.
Blood transfusions are given as needed to correct anemia and hypotension secondary to hypovolemia. Infusion of platelet concentrates is recommended for correction of hemorrhage associated with platelet-type vWD. The prevalence of vWD is about one in individuals. The prevalence of clinically significant cases is one per 10, It may be more severe or apparent in people with blood type O.
VWD can also affect dogs, pigs, and mice.
Furthermore, cases have been reported in cats, horses, cattle, and rabbits. Causal mutations for type 2 were identified in dogs of the breeds German Wirehaired Pointer , German Shorthaired Pointer , and Chinese Crested ; and for type 3 in dogs of the breeds Kooikerhondje , Scottish Terrier and Shetland Sheepdog. In dogs affected by type 1 vWD, the causal mutation was the same across all breeds and the same mutation was also detected in some human vWD type 1 patients.
In contrast, the mutations causing vWD type 3 in dogs are specific to each breed. Genetic screening is offered for known breeds. In pigs, the causal mutation for vWD type 3 has also been identified. It is a large duplication within the vWF gene and causes serious damage to the gene function, so that virtually no vWF protein is produced.
The clinical picture in pigs is most similar to that in humans with vWD type 3. Therefore, those pigs are valuable models for clinical and pharmacological research. Mice affected by vWD type 3 were produced by genetic engineering to obtain a small sized model for the human disease. In these strains, the vWF gene has been knocked out. He ultimately assessed 66 members of her family and reported in Swedish-language article that this was a previously undescribed bleeding disorder that differed from hemophilia.
In the s, it became clear that a "plasma factor", factor VIII , was decreased in these persons and that Cohn fraction I-0 could correct both the plasma deficiency of FVIII and the prolonged bleeding time. Since this time, the factor causing the long bleeding time was called the "von Willebrand factor" in honor of Erik Adolf von Willebrand. Variant forms of vWF were recognized in the s, and these variations are now recognized as the result of synthesis of an abnormal protein.
During the s, molecular and cellular studies distinguished hemophilia A and vWD more precisely. Gene sequencing identified many of these persons as having a vWF gene mutation. The genetic causes of milder forms of low vWF are still under investigation, and these forms may not always be caused by an abnormal vWF gene. From Wikipedia, the free encyclopedia. This article needs more medical references for verification or relies too heavily on primary sources.
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Unsourced or poorly sourced material may be challenged and removed. The most common treatment for vWD is desmopressin, a medication that causes a temporary increase in the von Willebrand factor and factor VIII levels. It can be given intravenously into a vein or intranasally into the nose , but may be ineffective in treating Type 2A or Type 2B.
Medication to inhibit the breakdown of blood clots such as aminocaproic acid also might be used. Kids with vWD should avoid unnecessary trauma, including contact sports. If bleeding does occur, apply pressure to the area. During nosebleeds , pinch the soft part of the nose and have the child lean slightly forward to keep the blood from flowing down the throat.
Inheritance of vWD
Because of the possibility of excessive bleeding, male infants who are at risk for vWD those with a family history of the disease should not be circumcised without a doctor's OK. Girls with vWD who have started their periods might want to take extra pads or a change of clothes in case of accidents.
Heavy menstrual bleeding sometimes can be controlled with birth control pills. Kids with vWD should not take aspirin and other non-steroidal anti-inflammatory drugs such as ibuprofen for pain or fever.