• Hereditary PFDs: 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.
• Acquired PFDs: These are caused by certain medical conditions or from the use of medications that 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: 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: A rare, severe hereditary PFD that results in an inability of platelets to aggregate.

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 called “venous thrombosis” and occur most often in the legs. Blood clots in arteries are called “arterial thrombosis” and cause strokes or heart attacks. Several conditions have been identified that 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 can interfere with the blood supply to vital tissues, causing pain and swelling of the tissue in that area, and can even cause permanent tissue damage. Clots can grow quickly and can break apart, sending small pieces of the clot (called emboli) through the blood. These can then become lodged in vessels in different areas of the body, most commonly the lungs (pulmonary embolism). An embolus in the vessels of the brain can cause a stroke. Both of these can be life-threatening.

Acquired thrombophilia: 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 acquired or hereditary, can significantly increase the risk for developing clots. There are several types of acquired thrombophilia that can be detected by appropriate laboratory testing.

Hereditary thrombophilia: Some people are born with thrombophilia 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. Hereditary thrombophilia includes:

• Factor V Leiden
• Antithrombin III deficiency
• Protein C deficiency
• Protein S deficiency
• Prothrombin gene mutation
• Hyperhomocysteinemia
• Elevated LP(a), also known as lipoprotein (a)

• Face-to-face education for patients and families at every outpatient clinic visit with hematologist and nurse coordinator
• Social worker, financial counselor, genetic counselor, pharmacy staff, physical therapist (as needed)
• 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 daycare providers
• Infusion supervision support (as needed)

• Education of community health providers, including physicians, outpatient clinic staff, local emergency room staff and inpatient hospital staff that may interface with patients with bleeding disorders
• In-services for school staff and daycare providers who care for children with bleeding disorders