Case Report: A case of PAI-1 4G/5G heterozygosity causing Budd-Chiari Syndrome [version 1; peer review: 2 approved with reservations]

• Published in: F1000 research 2019, Vol.8, p.1568
• Main Authors: Sousa, Domingos, Antunes Silva, Sergio, Jorge, Catarina, Martins Fernandes, Rita, Rodrigues, Ana Isabel, Viana Coelho, Margarida, Guimarães, Joana Filipa, Osorio, Rui Marques, Morais, Juvenal, Ríos, Elena, Figueiredo, Armindo
• Format: Article
• Language: English
• ISSN: 2046-1402; 2046-1402
• DOI: 10.12688/f1000research.20170.1

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.