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factor XI deficiency; plasma thromboplastin antecedent deficiency; Rosenthal syndrome
Epidemiology:
1) occurs equally in both sexes
2) affected patients are usually of Ashkenazi-Jewish heritage
3) 3rd most common inherited coagulation disorder
Genetics:
- autosomal recessive
- associated with defects in coagulation factor XI
Clinical manifestations:
1) bleeding problems are less than factor VIII deficiency or factor IX deficiency
2) generally no hemarthrosis
3) mucosal bleeding predominates
a) epistaxis
b) menorrhagia
4) prolonged bleeding usually occurs after trauma or surgery
Laboratory:
1) prolonged aPTT
2) normal PT
3) low levels & activity of factor XI in plasma
4) F11 gene mutation
Complications:
- heterozygotes may bleed excessively after surgery or injury
Management:
1) fresh frozen plasma
2) purified concentrate not available (1998)
3) epsilon-aminocaproic acid (Amicar) may be useful for dental surgery, but should NOT be used for abdominal surgery (may induce thrombosis)
4) prophylaxis for symptomatic patients prior to most surgeries unnecessary [1]
Related
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
General
hemophilia
Database Correlations
OMIM 612416
References
- Medical Knowledge Self Assessment Program (MKSAP) 11, 18, 19.
American College of Physicians, Philadelphia 1998, 2018, 2022.