Saudi boy with Factor XII Deficiency Case Report

Abstract: Factor XII deficiency (Hageman Factor) is a very rare coagulation disorder. The role of FXII is that it acts as an activator of Factor XI. Activation of Factor XI leads to the initiation of the intrinsic pathway of the coagulation cascade. Most patients with confirmed FXII deficiency are asymptomatic. Little is known about natural history and clinical presentations of individuals affected with this rare entity. We describe a case of 2 year old girl who was referred to the pediatric hematology clinic for further investigation after she was found to have an isolated prolonged activated Partial Thromboplastin Time (aPTT). She was found incidentally after coagulation profile was performed. She was completely asymptomatic. Historically, Factor XII has been associated with thromboembolic events rather than bleeding symptoms. Majority of cases reported have no symptoms at all at time of diagnosis and no history of bleeding. Our patient was known to have a history of Developmental Dislocation of the Hip and Strabismus with past surgical history of two surgery without any bleeding complications. Keywords: Prolong PPT, Factor XII. Title: Saudi boy with Factor XII Deficiency Case Report Author: Ibrahim Al-Harbi, Abdulaziz Saleh Althobaiti, Enas Hasan Alahmadi International Journal of Healthcare Science ISSN 2348-5728 (Online) Research Publish Journals

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