Information for Professionals
The Comprehensive Center for Bleeding Disorders (CCBD) offers these educational resources for professionals:
- Education of community health providers including physicians, outpatient clinic staff, local emergency room staff and inpatient hospital staff
- In-services for schools and daycare providers
Hemophilia is a genetic disorder characterized by a deficiency or absence of one of the clotting proteins in plasma. The result is delayed clotting. Deficiencies of factor VIII (8) and factor IX (9) are the most common and referred to as hemophilia. There are varying degrees of severity dependent on the deficiency of factor VIII or IX, mild, moderate, and severe. Hemophilia mostly affects males due to the X-linked inheritance pattern, but women who are carriers can exhibit delayed clotting.
Common Symptoms of bleeding disorders:
- Easy bruising; bruising with little or no known injury; bruising that occurs in more than one part of the body; bruises which are 2 inches or larger; firm or tender bumps in center of bruises (hematomas)
- Heavy or prolonged menstrual periods; periods which last longer than 1 week; need to change tampon or pad every 1-2 hours during the first or second day of menstrual cycle; use more than 2 dozen (24) tampons or pads in 1 month; frequent need to miss work/school because of heavy menstrual flow
- Frequent prolonged nosebleeds; nosebleeds that occur more than once a year and are difficult to control or take more than 10 minutes to stop even with pressure
- Prolonged or unusual bleeding after injury, surgery, childbirth or dental work; bleeding that has caused your doctor to tell you that you bleed more than expected or required blood transfusions.
Thrombophilia is a condition that leads to an increased risk of developing dangerous blood clots in the veins or arteries. Blood clots in veins are often called “venous thrombosis” and occur most often in the legs. Blood clots in arteries are often called “arterial thrombosis” and cause strokes or heart attacks. Several conditions have been identified which may lead to clots; they may be present at birth (congenital or inherited) or may occur as the result of another condition (acquired).
Under certain circumstances, the system in the blood vessels that regulates the blood clotting process is disturbed and a blood clot abnormally forms within the veins or arteries. Sometimes these clots become large enough to obstruct the blood flow through that vein or artery. This then can interfere with the blood supply to vital tissues or there can be a backup of blood behind the clot. This can cause pain and swelling of the tissue in that area and can cause permanent tissue damage. Clots can grow very quickly and can break apart, sending small pieces of the clot (also called emboli) through the blood. These can then become lodged in vessels in different areas of the body, most commonly the lungs. Emboli in the vessels of the lungs are known as pulmonary emboli. An embolus in the vessels of the brain can cause a stroke. Both of these can be life-threatening.
A person may develop an acquired thrombophilia at any point in their life. An acquired thrombophilia may be transient, meaning it may disappear on its own, or as a result of treatment. Acquired thrombophilia is not passed from a parent to a child, but a family may have a predisposition to develop acquired thrombophilia. A person may develop an acquired thrombophilia, and may also have an inherited thrombophilia. The presence of more than one thrombophilia condition, whether it is acquired or hereditary, can significantly increase the risk for developing clots.
There are several types of acquired thrombophilias that can be detected by appropriate laboratory testing. The most common acquired thrombophilias include formation of antiphospholipid antibodies known as lupus anticoagulant, anti- cardiolipid antibodies or anti-beta-2 glycoprotein and antibodies. Hyperhomocysteinemia is also thought to be an acquired thrombophilia but this is controversial.
Some people are born with thrombophilia (inherited) either as a result of inheriting an abnormal gene from one parent (heterozygous), inheriting the same abnormal gene from both parents (homozygous), or from a genetic mutation that occurred after conception (spontaneous mutation). People can also inherit more than one abnormal gene (compound heterozygous). People with hereditary thrombophilia have either an inability of the body to produce adequate amounts of normal protein, or the body produces abnormal protein, which does not function normally. A person may have more than one type of hereditary thrombophilia, or may have both hereditary and acquired thrombophilia. The following is a list of some hereditary thrombophilias:
- Factor V Leiden
- Antithrombin III Deficiency
- Protein C Deficiency
- Protein S Deficiency
- Prothrombin Gene Mutation
- Elevated LP(a) (also known as lipoprotein a)
Education for Patients
The Comprehensive Center for Bleeding Disorders (CCBD) offers the following educational resources for patients and their families:
- Face-to-face education for patients and their families at every outpatient clinic visit
- In home and office education for newly diagnosed patients and patients in the process of certification for home-based infusions
- In services for schools and day care providers
Our HomeCare Program offers in-home education and medical/nursing care to CCBD patients and their families, focusing on prevention as well as treatment. Providing these services to patients in their own homes reduces anxiety and decreases problems associated with scheduling, transportation, travel costs and insurance coverage. The program supports Versiti's vision of appropriate care and maintenance of central lines, encourages an earlier transition to peripheral access and patient independence, and less reliance on contracted nursing services whose staff may be inexperienced in specialized care of patients with hemophilia and other bleeding disorders.
Platelet Function Defects
There are several different types of platelet function defects (PFDs), as well as varying degrees of severity. The number of platelets is usually normal; however, the function of the platelets is abnormal. Platelets are small disc shaped cells that circulate in the blood. Platelets play an important role in the clotting of blood and the beginning repair of injured blood vessels. Platelets stick to, and spread on, areas of damaged blood vessel walls (platelet adhesion). These spreading platelets release substances that activate other nearby platelets which clump at the site of injury to form a platelet plug (platelet aggregation). The surface of these activated platelets then provides a site for blood clotting to occur. Clotting proteins that circulate in the blood are activated on the surface of the platelets to form a mesh-like fibrin clot.
Most PFDs diagnosed are of the mild hereditary type.
These PFDs do not usually “go away.” A patient diagnosed with the hereditary type of PFD will usually have it for the rest of their life. There are also acquired PFDs. These include PFDs caused by certain medical conditions or from the use of medications, which inhibit platelet function such as aspirin, non-steroidal anti-inflammatory drugs (such as ibuprofen and naproxen), blood thinners, and some antibiotics, antidepressants, anesthetics and heart drugs. Platelet function returns to normal when these medications are stopped. Bernard-Soulier Syndrome is a more severe, rare hereditary PFD that results in an inability of platelets to stick and spread at sites of blood vessel injury. Glanzmann’s thrombasthenia is also a rare, severe hereditary PFD, which results in an inability of platelets to aggregate.
von Willebrand Disease
Considered the most common bleeding disorder, von Willebrand disease is an inherited bleeding disorder that is caused by deficiency or dysfunction of von Willebrand factor, a plasma protein that mediates the initial adhesion of platelets at sites of vascular injury and also binds and stabilizes blood clotting factor VIII in circulation.