An Approach to the Diagnosis of Mild and Moderate Bleeding Disorders in Children

Introduction

Children presenting with bleeding symptoms may pose a significant diagnostic challenge. Some bleeding symptoms, such as recurrent epistaxis or bruises, are frequent among healthy children, and the clinical distinction between normal children and those with bleeding disorders can be complex [1]. In a recent study of 4592 unselected children, 223 (5%) were reported to have a problem with bleeding and/or bruising [2]. Other types of bleeding symptoms, such as intracranial hemorrhage, postoperative bleeding, or menorrhagia, can result from anatomical causes and do not necessarily reflect a bleeding disorder. The diagnosis of bleeding disorders is clinically important even though symptoms may be unimpressive, since patients with these disorders are at increased risk for profound bleeding during surgical procedures or following accidents. Missing a diagnosis of a bleeding disorder might result in uncontrolled hemorrhage. Inherited bleeding disorders include coagulation factor deficiencies, platelet deficiencies and/or dysfunctions, and von Willebrand disease (VWD).

Abstract

Most cases of severe inherited defects of hemostasis will be diagnosed early in life, however, moderate and mild bleeding disorders, either coagulation factor deficiencies or disorders of primary hemostasis, may not be detected. Children presenting with mild bleeding symptoms can pose a significant diagnostic challenge, as the bleeding symptoms with which they present, such as recurrent epistaxis or bruising, are frequent among healthy children. Thus, the clinical distinction between normal children and those with mild/moderate bleeding disorders can be complex. The first step in the diagnosis of bleeding disorders, therefore, is the identification of whether a child has significant bleeding symptoms. Useful in this regard is a recently described, validated, standardized pediatric bleeding questionnaire. Identification of a family history of bleeding is also important, and the severity of bleeding symptoms of family members could be quantitated with a validated, standardized bleeding questionnaire. If a bleeding disorder is suspected based on a personal and/or family bleeding history, specific laboratory testing is needed for attaining a diagnosis. The screening tests for coagulation factor deficiencies are considered reliable and are routinely available. However, for primary hemostatic defects, the various screening tests have not yet proven to be reliable and referral for a specialized hematology consultation and specific laboratory testing is needed. Perhaps a Bayes theorem approach, combining the personal and family bleeding history with the results of a screening test for a primary hemostatic defect would prove to be useful in the identification of those children who will most benefit from additional testing.

Keywords

bleeding disorder, evaluation, children, bleeding questionnaires, laboratory screening tests