Von Willebrand Disease Research Paper

Von Willebrand Disease is a genetic disorder caused by missing or defective Von Willebrand Factor which a clotting protein in the blood. Von Willebrand Disease is the most common bleeding disorder and it affects a large number of people. Von Willebrand Disease is carried on chromosome 12, it is genetically passed, and it affects men and women equally.
Symptoms: People with Von Willebrand Disease will often experience reoccurring nosebleeds and very easy bruising. During invasive procedures such as dental or surgery a person will bleed excessively. Women will have extremely heave periods and they may last longer than the average 28 day cycle. There is three main types of Von Willebrand disease. There is also a fourth type of Von Willebrand disease which is not hereditary.
Type 1 Von Willebrand Disease is found in 60%-80% of patients. People with type 1 Von Willebrand disease have a quantitative deficiency of Von Willebrand Factor. The symptoms are usually mild.
Type 2 Von Willebrand Disease is found in 15%-30% of patients. People with type 2 Von Willebrand Disease have a qualitative deficiency in their Von Willebrand Factor. Symptoms are mild to moderate.
Type 3 Von Willebrand Disease is found in 5%-10% of patients. People with type 3 Von Willebrand Disease have a quantitative deficiency of Von Willebrand Factor. Symptoms are typically
severe, and include spontaneous bleeding episodes, often into their joints and muscles.

Acquired Von Willebrand Disease. This type of Von Willebrand Disease in adults results after a diagnosis of an autoimmune disease. Such diseases include lupus, heart disease or certain types of cancer. It can also occur once a person has been taking certain medications for a period of time.
Diagnosis: If you have blood work done and it comes back and it seems you may have Von Willebrand Disease; your physician will refer you to a hematologist. The hematologist will do a full medical history. This is important to help determine if other family member have ever been diagnosed with a bleeding disorder or have experienced symptoms related to a bleeding disorder. Then the hematologist will complete tests that evaluate what your clotting time is and your body’s ability to form a clot may also be done. A clotting factor test, called an assay. These tests measure the platelet function in your blood. The Von Willebrand Factor antigen test will measures the amount of Von Willebrand Factor in your blood plasma. Patients with Von Willebrand Disease typically have less than 50% of normal Von Willebrand Factor in their blood plasma. If it is determined that you have Von Willebrand Disease, then further testing will be completed to see exactly what type of Von Willebrand Disease you have.
Treatment: Treatment for Von Willebrand Disease depends on the diagnosis and severity of the Von Willebrand Disease that you have..The main treatment used is DDAVP or desmopressin acetate, it is a synthetic version of a natural hormone vasopressin, the DDVAP stimulates the release of Von Willebrand Factor from cells, in return this also increases FVIII.
DDAVP comes in two forms: injectable and in a nasal spray. DDAVP is an antidiuretic. Antidiuretics can cause the body to retain water. Therefore, fluid restrictions are extremely important so you don’t have reduced sodium in the bloodstream which is known as
hyponatremia.
Another form of medications is called antifibrinolytics. These medications are given by intravenous infusion. Aminocaproic acid and tranexamic acid are antifibrinolytics agents that help prevent the breakdown of blood clots. These medications are often adminsitred before any dental procedures. They also help treat nose and mouth bleeds, and heavy periods. Antifibrinolytics are taken orally either as a tablet or liquid. IT is recommended that a dose of the clotting factor be taken first to form a clot. Once that is done then aminocaproic acid, to preserve the clot and keep it from being prematurely broken down.
Antifibrinolytics: “The indication for use of antifibrinolytic drugs is made with various methods. The most rapid and suitable one is thromboelastometry in whole blood, which is even possible in patients on heparin. With various assays, an enhanced fibrinolysis becomes visible in the curve signature and from the calculated values, e.g. the maximum lysis parameter. A special test for the identification of increased fibrinolysis compares the TEM in the absence or presence of the fibrinolysis inhibitor aprotinin. In severe cases of activated fibrinolysis, this assay confirms the syndrome already in less than 15 min during the early phases of clot formation”
Antidiuretic: Side effects include: headache, runny nose, stuffy nose, nausea, upset stomach, or flushing of the face may occur. Desmopressin can infrequently cause a low level of sodium in the blood, which can be serious and possibly life-threatening. Drinking too much water or other fluids increases the risk of having a low level of sodium in the blood. Serious symptoms include a loss of appetite, severe nausea, vomiting, severe headache, muscle weakness/spasms

References

https://www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Von-Willebrand-Disease

http://www.npcfund.org/blog/desmopressin-ddvap-infusions-for-platelet-dysfunction-disorder/