What are Bleeding Disorders?
Bleeding disorders are...
A group of inherited conditions that result when the blood does not clot properly due to a missing or defective protein or cell in one’s blood. Individuals affected by bleeding disorders may experience easy bruising, prolonged nosebleeds, heavy menstrual bleeding, and prolonged and spontaneous bleeding into joints, muscles, and organs. Prolonged bleeding may also occur following surgery or injury.
The body produces 12 clotting factors. If any of them are defective or deficient, blood clotting is affected. Platelets, cells in the blood stream, also assist in blood clotting and if affected, can cause bleeding. Depending on the type of defect, a mild, moderate or severe bleeding disorder can result.
Types of bleeding disorders:
Hemophilia is usually an inherited bleeding disorder in which the blood does not clot properly, however, in 30% of hemophilia cases there is no family history of hemophilia.
Blood contains many proteins called clotting factors that help to stop bleeding. People with hemophilia have low levels of either factor VIII (8) or factor IX (9), referred to as hemophilia A and B respectively. This can lead to spontaneous bleeding into muscles, organs and joints as well as bleeding following injuries or surgery.
The severity of hemophilia that a person has is determined by the amount of clotting factor in the blood, and is described as mild, moderate, or severe.
Hemophilia affects roughly 20,000 individuals in the US.
Hemophilia with Inhibitors
People with hemophilia a or b can develop an immune response to clotting factor in which antibodies attack the medication. A person who develops an inhibitor will require special treatment until their body stops making inhibitors.
Von Willebrand Disease
Von Willebrand disease (VWD) is a genetic disorder caused by missing or defective von Willebrand factor (VWF), a clotting protein.
People with VWD may experience frequent nosebleeds, easy bruising, and excessive bleeding during and after invasive procedures, such as tooth extractions and surgery. Women often experience menorrhagia, heavy menstrual periods that last longer than average, and may hemorrhage after childbirth.
There are 3 types of VWD with various subtypes organized by the specific problem with the von Willebrand factor, whether it is defective (doesn’t work properly) or deficient (not enough). Type 1 is the most common and usually the mildest form of VWD in which a person has lower than normal levels of VWF. In type 2, the VWF is defective and does not work properly. Type 2 is further broken down into four subtypes. Type 3 is the most severe form of VWD, in which a person has little to no VWF.
VWD affects up to 1% of the population, affecting both men and women equally. Parents with the disorders have a 50% chance of passing the disorder onto their children.
Inherited platelet disorders are caused by defective (do not work correctly) platelets, low amounts of platelets in the blood, or both. Platelets, cells in the blood, begin to work in the blood stream when there is an injury to the blood vessel wall. They go to the site of the injury, become sticky and make a platelet plug to control bleeding.
The clotting factors then build a clot around the platelets to stop bleeding. Since the platelets have multiple functions in the blood, there are multiple ways they may not work correctly. Types of bleeding problems may include; easy bruising, nosebleeds, gum bleeding, gastrointestinal bleeding, heavy menstrual bleeding, and prolonged bleeding with cuts and scratches.
Treatment depends on the type of platelet problem. The inheritance patterns vary based on the type of platelet disorder.
Other Inherited Bleeding Disorders
A person can have a defect in any one of the 12 clotting factors. These defects are rare. The type of bleeding noted, treatment options, and inheritance patterns vary with each disorder.
Treatment for bleeding disorders varies, depending on the condition and its severity. For some bleeding disorders, there are clotting factor concentrates that can be infused prophylactically or on-demand at home, to prevent or treat bleeds. For other bleeding disorders, there are oral or intravenous medications, topical products, and nasal sprays. Fresh, frozen plasma and platelet infusions are administered in a hospital setting.