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Factor XI Deficiency Acquired by Liver Transplantation

Kevin Clarkson, MB, BS; Brian Rosenfeld, MD; Jeffrey Fair, MD; Andrew Klein, MD; and William Bell, MD
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Requests for Reprints: Brian Rosenfeld, MD, Department of Anesthesiology, Meyer 299A, The Johns Hopkins Hospital, 600 North Wolfe Street, Baltimore, MD 21205.

Current Author Addresses: Drs. Clarkson, Rosenfeld, Fair, Klein, and Bell: The Johns Hopkins Hospital, 600 North Wolfe Street, Baltimore, MD 21205.

© 1991 American College of PhysiciansAmerican College of Physicians

Ann Intern Med. 1991;115(11):877-879. doi:10.7326/0003-4819-115-11-877
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▪ Factor XI deficiency (the Rosenthal syndrome), an autosomal recessive genetic defect, was transmitted to a patient after orthotopic liver transplantation. The deficiency was manifested by an isolated prolonged activated partial thromboplastin time (aPTT) after surgery. Hematologic evaluation using specific factor analysis revealed an absolute deficiency of factor Xl. Stored serum obtained from the organ recipient before transplantation showed normal factor XI levels. When the liver donor's family was questioned, it was discovered that he was of Ashkenazi Jewish descent and that he had a history of bleeding after dental procedures. Before his death from intracerebral bleeding, he was documented to have an isolated prolonged aPTT value. This case shows that potentially morbid genetic defects can be transmitted by organ transplantation. It also provides evidence confirming that the liver is the only site of factor XI production.





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