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Benign Hematologic (Blood) DisordersA collaborative project of the Arizona Telemedicine Program, the Arizona Health Sciences Library and the Arizona Cancer Center.
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Inherited Platelet Abnormalities
A. What Are Inherited Platelet Abnormalities?
Bleeding may occur if platelet levels are too low or if platelet function is abnormal. In the case of platelet abnormalities, bleeding occurs in the first few hours following injury when platelets would normally be responsible for plugging the wound site. Platelet abnormalities may be inherited as an inability to produce enough platelets or as a production of abnormally-functioning platelets.
B. Problems with Platelet Quantity
Thrombocytopenia is a reduction in platelet levels in the blood. This may be caused by decreased platelet production or increased platelet destruction. Thrombocytopenia may develop due to disease or other factors, or it may be inherited.
Hereditary thrombocytopenia is rare. Genetic defects decrease the number of megakaryocytes (the cells that produce platelets) in the bone marrow, resulting in fewer platelets in the blood, some of which may be giant or tiny. Most of these hereditary disorders are mild and have few symptoms. However, more severe versions of the disease include Wiscott-Aldrich syndrome, thrombocytopenia with absent radii (TAR; a severe disease in newborns), and Chediak-Higashi syndrome (symptoms include albinism, increased infections, and bleeding). Hereditary thrombocytopenia is diagnosed based on family and patient history, physical assessment for symptoms, and laboratory testing.
C. Problems with Platelet Quality
Most platelet quality disorders result in an inherited inability of the platelets to stick to each other and to the wound site. Symptoms of platelet quality defects are similar to those of thrombocytopenia, including hemorrhage, petechiae, bruising, and blood in the stool. Two kinds of inherited platelet quality disorders are Bernard-Soulier syndrome and thrombasthenia. Disorders are diagnosed and differentiated based on patient and family history, physical examination, and laboratory testing. Treatment involves medications such as desmopressin (DDAVP), antifibrolytic medications such as e-aminocaproic acid (Amicar), and corticosteroids such as Hydrocortone and Hydrocortisone.
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Updated: October 30, 2000