Transjugular liver biopsy is safe and diagnostic for patients with congenital bleeding disorders and hepatitis C infection.

The prevalence of chronic hepatitis C virus (HCV) infection among patients with severe congenital bleeding disorders is as high as 98%. Advances in HCV treatment currently result in sustained virological response rates of > or =50%. Recent recommendations have reaffirmed that liver biopsy, which provides a direct histological assessment of liver inflammation and fibrosis, is still important for accurate diagnosis and therapeutic decision making. Percutaneous liver biopsy is a simple, standardized procedure that can be performed rapidly and relatively inexpensively, and has been safely performed in patients with congenital coagulopathies. However, the safety and efficacy of the transjugular approach (transjugular liver biopsy, TJLB), recommended for patients with acquired coagulopathies, has only been minimally studied in the congenital bleeding diathesis population. We now report our institutional experience with TJLB in 13 such adult patients (mean age 33 years) with severe/mild haemophilia A/B (10); von Willebrand disease (1); factor V deficiency (1) and factor XIII deficiency (1). Data were collected by retrospective chart review and the TJLB was performed according to institutional protocol as described. Haemostasis prophylaxis was given for 1-5 days. Patients were hospitalized for < or =48 h and all tolerated the procedure without bleeding. Three patients experienced self-limited abdominal discomfort; one episode was accompanied by transient transaminaemia. Diagnostic specimens were obtained from all patients and were instrumental in the therapeutic decision-making process. We suggest that with a co-ordinated multidisciplinary approach to care, TJLB is a safe, effective and potentially cost-effective alternative to the percutaneous approach in the congenital bleeding disorders population.