Abstract and Introduction
Adults with bleeding disorders may present to their family physician with minor bleeding symptoms or hematologic laboratory abnormalities discovered during evaluation for surgery or another purpose. Identifying the small proportion of adults who have an underlying bleeding disorder as the cause for such signs or symptoms may be challenging. In cases of asymptomatic hematologic laboratory abnormalities, the particular abnormality should narrow down the potentially affected hemostatic component(s), ideally streamlining subsequent investigation. In patients presenting with bleeding symptoms, a thorough history and physical examination are critical for first identifying bleeding as pathologic, then performing the appropriate diagnostic evaluation after excluding identifiable causes. Knowledge of the pathophysiologic processes contributing to impaired hemostasis in any given bleeding disorder ensures proper treatment and avoids therapies that are unnecessary or even contraindicated. Management is further determined by bleeding phenotype and, for invasive procedures, the anticipated risk for bleeding. Consultation with a hematologist may facilitate proper evaluation and treatment, particularly in adults with rare bleeding disorders or no identifiable cause for bleeding. This article reviews the diagnostic approach to hematologic laboratory abnormalities and abnormal bleeding in adults, as well as basic preventive care and hemostatic management of adults with bleeding disorders.
Adults with undiagnosed bleeding disorders present in a variety of ways. While severe bleeding disorders and most congenital bleeding disorders initially present during childhood, conditions associated with heavy bleeding only after a hemostatic challenge (such as surgery or trauma) often present during adulthood. This includes milder phenotypes of congenital disorders such as hemophilia and von Willebrand disease (VWD). In addition, acquired disorders such as coagulation factor inhibitors affect adults more often than children. Adults with bleeding disorders may also initially present with abnormal coagulation laboratory studies or seek an initial consultation when a family member is diagnosed with an inherited bleeding disorder.
Given the spectrum of possible presentations, primary care providers may be the first to encounter an adult presenting with an as yet undiagnosed bleeding disorder. Accurate diagnosis depends on an ability to recognize the signs and symptoms that indicate an underlying bleeding disorder, followed by appropriate laboratory testing and interpretation of abnormal coagulation studies. The purpose of this article is to provide practical guidance for the family physician regarding the evaluation of bleeding symptoms and abnormal hematologic laboratory studies in adults. Basic preventive care and hemostatic management of those ultimately diagnosed with bleeding disorders also is discussed.
J Am Board Fam Med. 2014;27(4):549-564. © 2014 American Board of Family Medicine