Keywords
Factor VII deficiency
Hemorrhage
How to Cite
Abstract
Background. Congenital factor VII deficiency is an extremely rare hereditary condition, with a prevalence of 1 in every 500,000 individuals. The true prevalence of FVII deficiency is estimated to be underestimated because a considerable number of patients are asymptomatic. Symptomatic patients may exhibit manifestations such as epistaxis, mucocutaneous bleeding, ecchymosis, and menorrhagia. Clinical case. 33-year-old male patient with a history of melena, adynamia, and asthenia. He denies previous pathologies but reports a history of recurrent bleeding since childhood. Laboratory tests reveal microcytic and hypochromic anemia, as well as prolonged prothrombin time. A mixing test is performed due to abnormalities in coagulation times and their correlation with bleeding history. Coagulant activity levels of FVIIa are measured, resulting in <1%, confirming a hemorrhagic coagulopathy due to congenital FVII deficiency. Discussion. FVII deficiency represents a rare congenital disorder that often goes unnoticed due to its clinical variability. Clinical suspicion is necessary for the timely diagnosis and treatment of this condition.
References
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