Factor XI deficiency

Disease Overview

Factor XI deficiency is a bleeding disorder that interferes with the body’s clotting process. As a result, people affected by this condition may have difficulty stopping the flow of blood following dental extractions, trauma or surgery. Women with factor XI deficiency may also experience heavy menstrual periods or heavy postpartum bleeding. Within affected people and their families, highly variable bleeding patterns occur, and bleeding risk can not be predicted by the level of factor XI (a clotting factor) in the blood.[10581][10582] Although the condition can affect people of all heritages, it is most common in people of Ashkenazi Jewish descent.[10581] Most cases of factor XI deficiency are inherited and caused by changes (mutations) in the F11 gene. In most cases the condition is inherited in an autosomal recessive manner however, it may follow an autosomal dominant pattern in some families.[10584] Treatment is often only recommended during periods of high bleeding risk (i.e. surgery) and may include fresh frozen plasma and/or antifibrinolytics (medications that improve blood clotting). Factor XI concentrates may be available for factor replacement in some countries.[10583][10582][10581]

Synonyms

• PTA deficiency
• F11 deficiency
• Rosenthal syndrome
• Plasma thromboplastin antecedent deficiency
• Hemophilia C
• Congenital factor XI deficiency
• Rosenthal factor deficiency