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High risk and low prevalence diseases: Hemophilia emergencies
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High risk and low prevalence diseases: Hemophilia emergencies
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Journal Article
High risk and low prevalence diseases: Hemophilia emergencies
2022
Overview
Hemophilia is a bleeding disorder due to coagulation pathway factor deficiency that is associated with significant morbidity and mortality.
This review highlights the pearls and pitfalls of the emergency department (ED) evaluation of hemophilia, including diagnostic procedures, imaging, and management based on current evidence.
Hemophilia is marked by deficiency in factor VIII (in hemophilia A) or IX (in hemophilia B), which may result in severe bleeding. The severity of the disease depends upon factor levels. Patients with severe deficiency most commonly present in the first two years of life. Severe bleeding may include intracranial hemorrhage, retroperitoneal bleeding, large hematomas, bleeding within the chest or abdomen/pelvis, and subacute or delayed postpartum bleeding. ED management is the immediate replacement of clotting factors based on the suspicion of bleed rather than the confirmation of one. The doses for factor concentrate replacement to achieve factor levels of 100% are 50 U/kg for FVIII and 100 U/kg for FIX. The development of inhibitors can complicate the clinical picture and treatment possibilities. Consultation with the hematology specialist is recommended to assist with evaluation and management.
Emergency physician knowledge of hemophilia, including the presentation, evaluation, and management, can improve the care of these patients.
