HEMOPHILIA is an inherited bleeding disorder caused by a deficiency or defect of one of the proteins necessary for blood to properly clot. These proteins are known as clotting factors. The type and severity of a person’s hemophilia depends on which protein is involved and to what degree they are deficient. Hemophilia should be suspected in anyone who has easy bruising, bleeding into joints and muscles, spontaneous bleeding and/or prolonged bleeding.
The most common types of hemophilia are Hemophilia A (classic hemophilia), which is a deficiency of factor VIII, and Hemophilia B (Christmas disease), which is a deficiency of factor IX. Individuals with hemophilia do not bleed faster than others; they bleed longer because their blood does not clot properly. Bleeding into joints, muscles, and even vital organs, like the brain, can occur. Bleeding can be life threatening. Over a period of time, this bleeding can lead to chronic pain, arthritis, deformity and disability. Although hemophilia can occur in women (extremely rare), it affects mostly males and occurs in 1 in every 7,500 male births.
Treatment of hemophilia is aimed at replacing the deficient clotting factor. This is done via infusions of concentrates containing the needed factor. Many people with hemophilia are on a home infusion program whereby they self-infuse the clotting factor concentrate on a regular scheduled to prevent bleeds and/or infuse when a bleed occurs. This ensures prompt treatment, and gives them greater independence and more control over managing their disorder. There are several product options for people with hemophilia, including factor that is synthetic as well as plasma derived.
Hemophilia is a hereditary bleeding disorder that is life-long. At present, there is no cure for hemophilia. However, there are many resources available to individuals living with this chronic disorder.
VON WILLEBRAND DISEASE (vWD) is the most common inherited bleeding disorder, affecting 1-2% of the world’s population. Unlike hemophilia, vWD is inherited autosomally, so it can occur equally among females and males. There are three types of vWD: Type 1, Type 2 (with several subtypes), and Type 3. Having vWD means that a person either produces too little of a blood protein called von Willebrand factor (vWF) or the body does not produce the protein at all. vWF helps stop bleeding by helping to form blood clots. vWD can be very difficult to diagnose and the testing is complicated. It is very important to go to a qualified treatment center where a hematologist and experienced staff can conduct the testing.
Type 1 vWD is the most common, affecting 70%-80% of people with vWD. A person with Type 1 vWD usually has mild to moderate bleeding symptoms. With Type 1, von Willebrand factor levels are lower than normal but function correctly.
Type 2 vWD accounts for approximately 15-30% of people with vWD. With Type 2, vWF levels are usually normal but they do not function correctly.
Type 3 vWD is the rarest form of the disease, affecting about 1% of people with vWD. A person with Type 3 vWD produces little, if any, vWF and usually has the most severe symptoms.
The treatment of vWD is based on the type and symptoms of the disease. The goal of treatment is to correct the clotting problem, which is usually done by raising the levels of vWF and factor VIII. Right now the only vWF concentrate that is approved for use in the United States is Humate-P®, which is an antihemophilic factor/von Willebrand factor complex. Humate-P® is derived from human plasma and given by infusion. Another treatment is DDAVP, which is a medicine that works by helping the body to release stored vWF into the bloodstream and increasing levels of factor VIII. DDAVP is usually only effective in vWD patients with type 1.
An alternative for people with mild or moderate vWD is Stimate®, which is essentially DDAVP in a nasal spray. Because it is sprayed rather than injected, it is much easier to use. Local clotting agents, called antifibrinolytics, are also used to help correct clotting problems. These agents do not help the body form blood clots, but they help protect blood clots and hold them in place. They are often used in addition to other medicines. Antifibrinolytics can be taken as an injection or by mouth (tablet, capsule, elixir or mouthwash). Oral contraceptives can also increase vWF levels.
With adequate care, people with vWD should be able to lead healthy lives. Proper diagnosis and treatment is, of course, essential. vWD is often misdiagnosed and misunderstood. Working with a doctor that specializes in bleeding disorders is extremely important. Also, self-educating and advocating is the only way to ensure the best treatment and overall quality of life.
COAGULATION PROTEIN DEFICIENCIES other than factor VIII, factor IX, or vWF make up approximately 15% of inherited bleeding disorders. Inherited deficiencies of fibrinogen and factors II, V, VII, X, XI, and XIII may result in bleeding, requiring treatment. Each of these rare factor deficiencies affects between 1 in 100,000 and 1 in 3 million people. Like hemophilia, these are genetic diseases, passed on from parents to their children. However, unlike the more common bleeding disorders, for a person to be seriously affected by one of the rare factor deficiencies listed above, both parents must be carriers of the defective gene.
- Factor I deficiency (fibrinogen deficiency)
- Factor II deficiency (prothrombin deficiency)
- Factor V deficiency (parahemophilia)
- Factor VII deficiency (Alexander’s Disease)
- Factor X deficiency (Stuart-Prower Disease)
- Factor XI deficiency (hemophilia C)
- Factor XIII deficiency
The mainstays of therapy for these disorders are cryoprecipitate (for fibrinogen and factor XIII deficiencies) and plasma.
HEREDITARY PLATELET FUNCTION DISORDERS
Types of Hereditary Platelet Function Disorders:
- Disorders of Platelet Adhesion:
- Bernard-Soulier Syndrome is a rare disorder caused by a deficiency on the surface of the platelet which does not allow platelets to stick and clump together at the site of an injury. Symptoms include frequent bruises, nose bleeds and bleeding into the mouth and gums. Some people may experience gastrointestinal bleeding. Women may experience heavy menstrual bleeding.
- Disorders of Platelet Aggregation:
- Glanzmann Thrombasthenia is a rare disorder and can be life-threatening. It is caused by a deficiency of a protein on the surface of the platelet. As a result, platelets fail to form a plug at the site of an injury. Like Bernard-Soulier Syndrome, children experience bruising, nose bleeds and bleeding in the mouth and gums. Women may experience heavy or prolonged menstrual bleeding and bleeding at the time of childbirth.
- Disorders of Platelet Secretion:
- Gray Platelet Syndrome is the result of a lack of important proteins within the platelet. This problem slows down normal platelet adhesion, aggregation and repair of the blood vessel. Bleeding time is usually long and the platelet count may be low.
- Delta Storage Pool Deficiency is the result of a lack of storage granules for certain substances needed for normal platelet activation. Their absence slows down platelet activation and blood vessel constriction. Bleeding time is sometimes longer than normal. Some people with this disorder also have abnormalities in hair color, difficulties with vision and are more prone to infection.
- Abnormalities of the Granule Secretory Mechanism occur when the normal granules fail to release their contents when platelets are activated. People with this disorder have platelet dysfunction like that of individuals who have been given drugs such as aspirin to stop their platelets from clumping together.
- Disorders of Platelet Procoagulant Activity:
- Scott Syndrome is a rare disorder in which platelets fail to promote activation of blood clotting proteins necessary for the formation of the fibrin clot. Specific tests are required to determine platelet procoagulant activity if this disorder is suspected.