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Published on: August 15, 2019
Primary Budd-Chiari syndrome in a 3-year-old boy with homozygous factor V Leiden G1691A mutation
Aleksandra Boskovic1, Ivana Kitic, Ivica Stankovic
1Department of Gastroenterology and Hepatology, Mother and Child Health Care Institute, Radoja Dakica 6-8, 11070, New Belgrade, Serbia, Aleksandra.bos@hotmail.com.
Unlabelled:
Budd-Chiari syndrome (BCS) is an uncommon disorder characterized by obstruction of hepatic venous outflow. The primary BCS is a rare disease with an incidence about 0.2 per million inhabitants per year. We present a 3-year-old boy with intrahepatic inferior vena cava clot. Because of decreased levels of protein C (38.7 %), F II (69.1 %), and activated protein C resistance (1.43), a mutational gene analysis was performed. The patient was found to be homozygous for the FV G1691A mutation.
Conclusion:
The primary BCS is a rare disease especially in childhood. Activated protein C resistance caused by the factor V Leiden mutation may be responsible for primary BCS. Prompt recognition of underlying prothrombotic disease and early initiation of their specific therapy might translate into rapid improvement of liver disease.
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