Abstract

Factor XI deficiency is a hereditary coagulation disorder with a quantitative and/or qualitative reduction of factor XI due to F11gene mutations. This is a common entity in Ashkenazi community, which can be underestimated in Caucasians. It can debut at any age with variable and unpredictable symptoms, showing poor relation between factor XI activity levels and bleeding symptoms. It can be diagnosed after a basic coagulation exam (lengthening activated partial thromboplastin time [APTT]) and factor XI levels measure. We present a factor XI deficiency clinical case for spreading this entity to the pediatric community.

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