Elderly female with a personal and family history of a bleeding disorder.

Abstract

A 77-year-old woman with a history of excessive bleeding and questionable diagnosis of von Willebrand disease (VWD)5 presented for a presurgical evaluation. Her daughter and grandson also had a history of a bleeding disorder. Bleeding events reported by the patient and her family members included easy bruising, postsurgical bleeding and hematoma formation requiring intervention with drainage and blood products, and excessive bleeding during childbirth. The physician requested testing for VWD to confirm the diagnosis and subtype, since subclassification of VWD guides appropriate therapy. Results of the initial testing revealed typical prothrombin time (PT) (13.7 s, reference interval 12.0–15.5 s), typical activated partial thromboplastin time (aPTT) (31.5 s, reference interval 24–35 s), mild thrombocytopenia (116 K/μL, reference interval 150–450 K/μL), typical von Willebrand factor antigen level (VWF:Ag) (108%, reference interval 52%–214%), typical factor VIII activity (98%, reference interval 56%–191%), decreased von Willebrand factor ristocetin cofactor activity (VWF:RCo) (19%, reference interval 51%–215%), and decreased VWF:RCo/VWF:Ag ratio (0.18, reference interval 0.7–1.0). Inherited bleeding disorders arise from abnormalities in primary hemostasis (formation of the initial platelet plug), secondary hemostasis (fibrin clot formation), or rarely from fibrinolytic or combined disorders. Initial evaluation of a suspected bleeding disorder includes a thorough personal and family bleeding history, complete blood count (CBC) with platelet count and peripheral smear review, PT, and aPTT. Fibrinogen measurement is also useful, since the PT and aPTT tests are not always sensitive to clinically significant fibrinogen disorders. Fig. 1 summarizes typical test result patterns in inherited bleeding disorders. If the patient has a strong personal or family history of mucocutaneous bleeding, VWD testing should be pursued early in the workup. The patient in this case had typical PT and aPTT with mild thrombocytopenia and a mucocutaneous bleeding history, which led to a workup for VWD. Fig. 1. Typical platelet count, PT, and aPTT patterns in inherited bleeding disorders. Although VWD commonly presents with platelet count, …