Inhibitor development after liver transplantation in congenital factor VII deficiency

Area of Science:

• Hematology
• Transplantation
• Genetics

Background:

• Congenital factor VII (FVII) deficiency is the most common rare bleeding disorder.
• Inhibitor development in FVII deficiency is rare, with liver transplant considered a definitive treatment.
• Limited data exists on inhibitor development and management post-liver transplant in FVII deficiency.

Observation:

• A 5-year-old girl with severe congenital FVII deficiency experienced recurrent intracranial bleeding.
• Despite recombinant factor VIIa (rFVIIa) replacement, she developed an FVII inhibitor after an auxiliary liver transplant.
• Her clotting profile remained deranged post-transplant.

Findings:

• The patient demonstrated persistent FVII inhibitor post-liver transplant.
• Interestingly, she remained responsive to rFVIIa therapy despite the inhibitor.
• This challenges the typical outcomes seen in FVII deficiency with inhibitors.

Implications:

• This case suggests that liver transplant may not always resolve FVII inhibitors.
• It highlights the potential for continued rFVIIa efficacy even in the presence of inhibitors post-transplant.
• Further research is needed to understand inhibitor development and management strategies in congenital FVII deficiency.