factor XI deficiency; plasma thromboplastin antecedent deficiency; Rosenthal syndrome

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
  • epistaxis
  • menorrhagia
• 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

More general terms

• hemophilia

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

Database

• OMIM: https://mirror.omim.org/entry/612416