Dr. Raffini, M.D., is assistant professor of pediatrics -University of Pennsylvania School of Medicine, Philadelphia, PA and attending physician in the division of hematology -Children's Hospital of Philadelphia, Philadelphia, PA. She has completed a two-year National Hemophilia Foundation sponsored fellowship in clinical hemostasis. Here, she discusses inter alia, normal hemostasis, hemophilia, and VonWillebrand Disease.
The author has no relationships with commercial interests related to the content of this lecture.
This lecture and the post-test is worth 1.5 credit hours.
Dr. Raffini contends that to understand inherited bleeding disorders, it is important to review normal hemostasis, the disruptions of whose critical components may result in bleeding. VonWillebrand's disease (VWD) and thrombocytopenia are examples of this, as is hemophilia. VWD, the author notes, is the commonest congenital bleeding disorder and she details its clinical manifestations and treatment.
She discusses signs that suggest the presence of a bleeding disorder, and such diagnostic screening tests as Prothrombin Time and Activated Partial Thromboplastin Time. She describes what she calls the 'fascinating history' of hemophilia and its epidemiology and pathophysiology, genetic testing, and clinical manifestations. Treatment of hemophilia, she says, has been much improved by the cloning of a recombinant factor IX product licensed as recently as 1997.
While VWD and hemophilia represent the majority of inherited bleeding disorders, hereditary deficiencies of other clotting factors such as factors II, V, X, VII, XIII, and fibrinogen may also be encountered.
The lecture concludes with a discussion of inherited thrombocytopenia.