Von Willebrand Disease Symptoms and Treatment

Updated on August 22, 2022

Von Willebrand disease is the most mutual inherited bleeding disorder, affecting approximately 1% of the population.

Von Willebrand factor is a blood protein that binds to gene VIII (a coagulation cistron). When cistron 8 is not jump to Von Willebrand gene, it breaks down easily. Von Willebrand cistron also helps platelets to attach to sites of injury.

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Symptoms

Some patients never experience any significant haemorrhage.

Von Willebrand affliction is often associated with:

  • Like shooting fish in a barrel bruising
  • Prolonged nosebleeds
  • Bleeding from gums
  • Prolonged bleeding later on tooth extraction or injury
  • Claret in stool
  • Hematuria (blood in urine)
  • Menorrhagia (excessive menstrual bleeding)
  • Joint bleeding or soft tissue bleeding may occur in severe forms similar to hemophilia

Types

  • Type 1: This is the most common form, occurring in approximately 75% of patients. It is passed downwards in families in an autosomal dominant fashion meaning but 1 parent needs to be afflicted to pass down the disease. This results from a lower than normal Von Willebrand gene level. Bleeding tin be balmy to astringent.
  • Type two: Type 2 occurs when the Von Willebrand factor does not office commonly.
  • Type 2A: Passed down in autosomal ascendant style. Moderate to moderately astringent bleeding.
  • Type 2B: Passed downward in autosomal ascendant fashion. Moderate to moderately severe haemorrhage. Thrombocytopenia (low platelet count) is not uncommon.
  • Blazon 2M: Uncommon blazon passed down in autosomal ascendant fashion.
  • Type 2N: Uncommon type passed downwards in autosomal recessive fashion. This ways the affected patient receives two copies of the mutated gene, one from each parent. Factor VIII levels can exist extremely low. Bleeding can be severe and may exist confused with hemophilia A.
  • Blazon 3: This is a rare type of Von Willebrand disease. Information technology is passed down in autosomal dominant fashion. Bleeding can exist severe. Patients with this type take an extremely low amount or absent Von Willebrand factor. This, in turn, causes a deficiency in factor 8 and pregnant haemorrhage.
  • Acquired: This class of Von Willebrand affliction is caused by something else like cancer, autoimmune disorders, cardiac anomalies (like ventricular septal defect, aortic stenosis), medications or hypothyroidism.

Diagnosis

Commencement, your physician must be suspicious that you take a bleeding disorder based on the symptoms in a higher place. Having other family members with like symptoms increases suspicion for Von Willebrand disease, particularly if both males and females are afflicted (in dissimilarity to hemophilia that predominantly impact males).

Von Willebrand affliction is diagnosed by performing a panel of blood work that looks at both the corporeality of Von Willebrand factor in the claret as well as its part (ristocetin cofactor action). Because several types of Von Willebrand disease can cause a reduction in factor Eight, levels of this clotting protein are likewise sent. Von Willebrand multimers, which looks at the structure of the Von Willebrand factor and how it is broken down, is of import peculiarly in diagnosing Type 2 disease.

Treatments

Mildly affected patients may never require treatment.

  • DDAVP: DDAVP (too called desmopressin) is a synthetic hormone that is administered via a nasal spray (or occasionally through an 4). This hormone helps the body to release Von Willebrand gene stored in the claret vessels.
  • Von Willebrand cistron replacement: Similar to replacement factor used in hemophilia, infusions of Von Willebrand factor can be given to prevent or treat bleeding. These products also contain factor Viii too.
  • Antifibrinolytics: These medications (make names Amicar and Lysteda), typically given orally, aid to stabilize clot germination. These can be particularly useful for nosebleeds, mouth bleeding, and menstrual bleeding.
  • Contraceptives: In women with Von Willebrand disease and heavy menstrual bleeding, hormonal contraceptives like birth control pills or intrauterine devices may exist used to reduce/cease bleeding.

By Bister Yates, MD
Amber Yates, Medico, is a lath-certified pediatric hematologist and a practicing physician at Baylor College of Medicine.

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