Factor XI deficiency acquired by liver transplantation

Area of Science:

• Hematology
• Genetics
• Transplantation Medicine

Background:

• Factor XI deficiency (Rosenthal syndrome) is an autosomal recessive bleeding disorder.
• Orthotopic liver transplantation is a complex procedure with potential complications.
• The liver is known to be the primary site for the synthesis of coagulation factors.

Observation:

• A patient developed Factor XI deficiency post-liver transplantation, presenting with a prolonged activated partial thromboplastin time (aPTT).
• Pre-transplant evaluation showed normal Factor XI levels in the recipient.
• The organ donor, of Ashkenazi Jewish descent, had a history of bleeding and a documented prolonged aPTT, and died from intracerebral bleeding.

Findings:

• Hematologic analysis confirmed an absolute deficiency of Factor XI in the recipient after transplantation.
• Serum analysis before transplantation indicated the recipient did not have the deficiency.
• The donor's family history and medical records suggested an inherited bleeding disorder.

Implications:

• This case demonstrates that serious genetic defects, such as Factor XI deficiency, can be transmitted through organ transplantation.
• It reinforces the critical role of donor screening for inherited conditions.
• The findings provide strong evidence that the liver is the exclusive site for Factor XI synthesis.