eMedicine Specialties > Hematology > Coagulation, Hemostasis, and Disorders

Factor XI Deficiency: Differential Diagnoses & Workup

Author: Jamie E Siegel, MD, Director, Cardeza Foundation Hemophilia Treatment Center, Thomas Jefferson University
Contributor Information and Disclosures

Updated: Aug 6, 2009

Differential Diagnoses

Other Problems to Be Considered

Differential with an isolated prolonged aPTT

Factor VIII deficiency
Factor IX deficiency
Factor XI deficiency
Factor XII deficiency
Lupus anticoagulant
Heparin contamination

Differential with a mild or intermittent bleeding disorder

Von Willebrand disease
Factor VIII deficiency/carrier state
Factor IX deficiency/carrier state
Factor VII deficiency (mild)
Platelet function disorder
Early liver dysfunction

Workup

Laboratory Studies

  • An aPTT should be performed.
  • A mixing study using normal pooled plasma may help identify a factor deficiency. If the sample is incubated and, subsequently, the aPTT is prolonged, then the presence of an inhibitor needs to be considered. Based on the data regarding high risk of inhibitor development in patients who have severe ( <1%) FXI levels, it is recommended that an inhibitor titer be checked before proceeding with surgery.
  • Factor assays for the intrinsic system should be performed with at least 3 dilutions.
  • In a patient who is newly diagnosed and without previous bleeding history or family history (neither is uncommon in a patient with FXI deficiency), care must be taken by the coagulation laboratory to separate out a nonspecific inhibitor or lupus anticoagulant versus a true FXI deficiency.
  • Homozygotes and compound heterozygotes will have a factor level of less than 15%. The expected FXI level in heterozygotes is 25-70%.

More on Factor XI Deficiency

Overview: Factor XI Deficiency
Differential Diagnoses & Workup: Factor XI Deficiency
Treatment & Medication: Factor XI Deficiency
Follow-up: Factor XI Deficiency
Multimedia: Factor XI Deficiency
References
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References

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Further Reading

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Keywords

factor XI deficiency, FXI deficiency, hemophilia C, plasma thromboplastin antecedent deficiency, Rosenthal's syndrome, Rosenthal syndrome, PTA deficiency, bleeding disorder

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Contributor Information and Disclosures

Author

Jamie E Siegel, MD, Director, Cardeza Foundation Hemophilia Treatment Center, Thomas Jefferson University
Jamie E Siegel, MD is a member of the following medical societies: American College of Physicians, American Society for Clinical Pathology, American Society of Hematology, and International Society on Thrombosis and Haemostasis
Disclosure: Nothing to disclose.

Medical Editor

Paul Schick, MD, Emeritus Professor, Department of Internal Medicine, Thomas Jefferson University Medical College; Research Professor, Department of Internal Medicine, Drexel University College of Medicine; Adjunct Professor of Medicine, Lankenau Hospital, Wynnewood, PA
Paul Schick, MD is a member of the following medical societies: American College of Physicians, American Heart Association, American Society of Hematology, International Society on Thrombosis and Haemostasis, and New York Academy of Sciences
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: eMedicine Salary Employment

Managing Editor

Ronald A Sacher, MB, BCh, MD, FRCPC, Professor, Internal Medicine and Pathology, Director, Hoxworth Blood Center, University of Cincinnati Academic Health Center
Ronald A Sacher, MB, BCh, MD, FRCPC is a member of the following medical societies: American Society of Hematology
Disclosure: Glaxo Smith Kline Honoraria Speaking and teaching; Talecris Honoraria Board membership

CME Editor

Rebecca J Schmidt, DO, FACP, FASN, Professor of Medicine, Section Chief, Department of Medicine, Section of Nephrology, West Virginia University School of Medicine
Rebecca J Schmidt, DO, FACP, FASN is a member of the following medical societies: American College of Osteopathic Internists, American College of Physicians, American Medical Association, American Society of Nephrology, International Society of Nephrology, National Kidney Foundation, Renal Physicians Association, and West Virginia State Medical Association
Disclosure: Abbott Grant/research funds Speaking and teaching; Genzyme Honoraria Consulting; Amgen Honoraria Speaking and teaching; Ortho Biotech Honoraria Speaking and teaching

Chief Editor

Emmanuel C Besa, MD, Professor, Department of Medicine, Division of Hematologic Malignancies, Kimmel Cancer Center, Thomas Jefferson University
Emmanuel C Besa, MD is a member of the following medical societies: American Association for Cancer Education, American College of Clinical Pharmacology, American Federation for Medical Research, American Society of Hematology, and New York Academy of Sciences
Disclosure: Nothing to disclose.

 
 
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