Bleeding disorders are the opposite of thrombophilia, and include hemophilia, von Willebrand’s disease, and thrombocytopenia. Rather than causing a deep vein thrombosis or embolism, bleeding disorders make clot formation difficult. People with bleeding disorders bleed easily, and may lose excessive amounts of blood from injuries, surgery, or dental work. Severe bleeding disorders may even cause spontaneous bleeding.
Hemophilia is perhaps the best known of the bleeding disorders. Hemophilia is a genetic disorder caused by mutations of genes on the X chromosome. Because the mutated gene is recessive, the majority of hemophiliacs are male.
Von Willebrand’s Disease
Von Willebrand’s disease is the most common of the inherited bleeding disorders, including hemophilia. Von Willebrand’s disease affects up to one percent of the population, and may be found in both sexes (as opposed to hemophilia, which primarily affects males).Von Willebrand’s factor is a protein that allows platelets to form temporary plugs at sites of blood vessel injury: an event that is essential if a solid blood clot is to form. Von Willebrand’s disease causes defects in von Willebrand’s factor, impairing the ability of platelet cells to ‘cling’ to an injury and form a plug.
Symptoms of von Willebrand’s are usually mild, and many people with the disease are unaware they have a bleeding disorder. Others find out only when an injury or surgery causes excessive bleeding. People with von Willebrand’s disease bruise easily, and may suffer from frequent nosebleeds. Women with von Willebrand’s disease may experience menorrhagia, or heavy menstruation.
Treatment of von Willebrand’s disease may not be necessary for daily life. Prior to surgery or dental work an intravenous infusion of desmopressin acetate may raise von Willebrand factor levels and stimulate coagulation. A desmopressin nasal inhaler is sometimes used to treat mild cases of von Willebrand’s disease. Alternative treatments include an intravenous infusion of blood factor VIII that is rich in von Willebrand’s factor.
Thrombocytopenia occurs when platelet cells fall to abnormally low levels, impairing coagulation. Leukemia, lymphoma, and some other cancers are known to cause thrombocytopenia. Cases of thrombocytopenia have also occurred due to heparin, a blood thinning medication.
Liver cirrhosis interferes with the liver’s ability to produce vital proteins, including coagulation factors. Low levels of coagulation factors in turn may lead to bleeding disorders.