Hematological assessment of a patient with an inherited bleeding disorder

© 2019 John Wiley & Sons, Ltd. The inherited bleeding disorders (IBDs) are a heterogeneous group of disorders affecting the hemostatic system. This chapter covers the mechanisms of normal hemostasis and an approach to the clinical and laboratory hematological assessment of a patient with a suspected IBD. The three main steps of primary hemostasis are platelet adhesion, platelet activation, and platelet aggregation and platelet plug formation. Secondary hemostasis usually occurs simultaneously with primary hemostasis. Fibrinolysis is tightly regulated by the fibrinolytic system. Fibrinolysis is initiated by the proteases tissue plasminogen activator (tPA) or urokinase-like plasminogen activator. Inherited bleeding disorders may manifest with a variety of bleeding symptoms. There may be considerable variability in symptom severity even in patients affected by the same disorder. An accurate diagnosis is important as the impact is far-reaching, especially with precautions that affect perioperative management, work, and lifestyle activities as well as implications for screening and investigation of family members.