Abstract
Budd-Chiari syndrome (BCS) is a hepatic venous outflow obstruction. A 36-year old Caucasian female was admitted with symptomatic hypoglycaemia. Lab tests revealed mild leucocytosis, thrombocytopenia and hepatic cytolysis. The abdominal ultrasound showed mild hepatomegaly due to hypertrophy of the left and caudate lobes, no blood flow on the right and medium hepatic veins and multiple intra-hepatic collateral vessels. Upper endoscopy showed grade I varicose veins. Further studies ruled out common prothrombotic disorders but identified an inherited thrombophilia: a plasminogen activator inhibitor 1 (PAI-1) 4G/5G heterozygous polymorphism. On presentation, this patient had signs of cirrhosis and secondary portal hypertension from imaging results at the time of diagnosis but no symptoms. Four years after the diagnosis the patient continues asymptomatic, which is very unusual. This patient's outcome will be favourable as long as their cirrhosis is compensated by the collateral vessels' permeability. Our case highlights a new association between primary BCS secondary to a prothrombotic inherit mutation: the PAI-1 4G/5G polymorphism.
Highlights
Budd-Chiari syndrome (BCS) is defined as a hepatic venous outflow tract obstruction -regardless of the level or mechanism of obstruction
Plasminogen Activator Inhibitor1 (PAI-1) is a crucial physiological inhibitor of fibrinolysis and regulates fibrinolysis by inhibiting tissue type plasminogen activator and urokinase type plasminogen activator which results in reduced fibrinolytic capacity
We report a rare case of polymorphism 4G/5G as a cause of a prothrombotic disorder resulting in BCS
Summary
Budd-Chiari syndrome (BCS) is defined as a hepatic venous outflow tract obstruction -regardless of the level or mechanism of obstruction. We report a rare case of polymorphism 4G/5G as a cause of a prothrombotic disorder resulting in BCS. The polymorphism 4G/5G results from a single deletion/insertion of a guanoside residue in promoter region of PAI-111 Inheritance of both 4G alleles (homozygous 4G/4G) has been associated with elevated PAI-1 levels leading to hypofibrinolysis and increased thrombotic risk. The present case report highlights heterozygous 4G/5G as a cause of increased prothrombotic risk, due to elevated PAI-1 levels which caused an hypofibrinolytic state with formation of blood clots within the hepatic vessels, destruction of liver parenchyma ending in BCS13. The treatment options for BCS include medical management of the underlying risk factors for thrombosis. Prothrombotic drugs such as oral contraceptives are contraindicated. Abdominal CT scans have not revealed any new findings for the last 4 years
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