factor XI deficiency; plasma thromboplastin antecedent deficiency; Rosenthal syndrome
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Epidemiology
- occurs equally in both sexes
- affected patients are usually of Ashkenazi-Jewish heritage
- 3rd most common inherited coagulation disorder
Genetics
- autosomal recessive
- associated with defects in coagulation factor XI
Clinical manifestations
- bleeding problems are less than factor VIII deficiency or factor IX deficiency
- generally no hemarthrosis
- mucosal bleeding predominates
- prolonged bleeding usually occurs after trauma or surgery
Laboratory
- prolonged aPTT
- normal PT
- low levels & activity of factor XI in plasma
- F11 gene mutation
Complications
- heterozygotes may bleed excessively after surgery or injury
Management
- fresh frozen plasma
- purified concentrate not available (1998)
- epsilon-aminocaproic acid (Amicar) may be useful for dental surgery, but should NOT be used for abdominal surgery (may induce thrombosis)
- prophylaxis for symptomatic patients prior to most surgeries unnecessary[1]
More general terms
Additional terms
- aminocaproic acid (Amicar)
- coagulation factor XI; FXI; plasma thromboplastin antecedent; PTA; contains: coagulation factor XIa heavy chain; coagulation factor XIa light chain (F11)
- fresh frozen plasma
References
- ↑ Jump up to: 1.0 1.1 Medical Knowledge Self Assessment Program (MKSAP) 11, 18, 19. American College of Physicians, Philadelphia 1998, 2018, 2022.