Dr. Brit Long, an expert in hemophilia, discusses background, severity, evaluation, and management. Topics include different types of hemophilia, complications in patients, challenges in diagnosis, managing hemophilia in the emergency department, factor replacement therapy, risks for patients, and the importance of consulting hematology specialists.
Hemophilia is a bleeding disorder linked to deficient proteins in the coagulation pathway, leading to excessive bleeding.
Management of hemophilia in the emergency department involves prompt assessment, resuscitation of life-threatening bleeds, and careful consideration of clotting factor replacement.
Deep dives
Understanding Hemophilia as a Bleeding Disorder
Hemophilia is a bleeding disorder with two main types: hemophilia A and hemophilia B. This condition results from a deficiency in the proteins of the coagulation pathway, leading to inadequate fibrin clot formation and excessive bleeding. Hemophilia can be inherited or acquired, affecting about 1 in 10,000 births. The severity of hemophilia is classified based on the levels of active factors present in the blood, ranging from severe (less than 1% factor availability) to mild (5-40% factor availability).
Clinical Presentation and Diagnosis of Hemophilia
Patients with hemophilia may present with various bleeding episodes, depending on the severity of their factor deficiency. Common presentations include oral mucosal bleeding and head bleeding in infants, while hemarthrosis (joint bleeding) is prevalent in older children. Mild hemophilia can often go undiagnosed until later in life, with one study indicating a diagnosis age range of 14 to 62 years. Females carrying the hemophilia gene are also at risk of bleeding complications despite traditionally being considered carriers.
Management and Considerations for Hemophilia Patients in the ED
In the emergency department, the management of hemophilia focuses on assessing and resuscitating any life-threatening bleeding events promptly. Treatment is primarily based on clinical history, and factor replacement is crucial for managing bleeds. Factors to consider include differentiating between major and minor bleeds, using specific clotting factor replacement doses, and being vigilant for the development of inhibitors that can complicate treatment. Special care is necessary during medical procedures, as patients with hemophilia are at risk of intraspinal or epidural hematomas if proper factor replacement precautions are not taken.