Factor Xi Deficiency

From Anvita Health Wiki

Contents 1 Epidemiology 2 Genetics 3 Clinical-manifestations 4 Laboratory 5 Complications 6 Management 7 More General Terms 8 Additional Terms 9 Internet Database 10 References

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

• prlonged bleeding usually occurs after trauma or surgery

Laboratory

• prolonged aPTT
• normal PT
• low levels & activity of factor XI in plasma

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)

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

Internet Database

OMIM: 612416

References

Medical Knowledge Self Assessment Program (MKSAP) 11, American College of Physicians, Philadelphia 1998

factor XI deficiency; plasma thromboplastin antecedent deficiency; Rosenthal syndrome