Budd-Chiari syndrome associated with coeliac disease: case report and literature review

Abstract

We report a case of Budd-Chiari syndrome occurring in a patient with coeliac disease, who presented with symptoms of increased abdominal girth, right upper quadrant pain and shortness of breath for three weeks prior to admission. Initial assessment revealed the presence of moderate ascites, hepatosplenomegaly and right-sided pleural effusion. Further diagnostic work-up established a diagnosis of chronic Budd-Chiari syndrome. Interestingly, complete screening for pro-thrombotic factors was negative. A review of the literature on this association disclosed only 28 similar cases, with the majority of them describing individuals of North African origin. Interestingly, in the majority of cases no specific thrombotic factor could be identified, suggesting that coeliac disease may play a role in this thrombotic disorder.

Rare Association of Budd-Chiari Syndrome With Celiac Disease: A Case Report

“…One multicentric case series showed that the majority of patients reported belonged to the female gender and presented in the third or fourth decade [1]. Likewise, our patient was also a female in her second decade of life.…”

“…Furthermore, some cases of Budd-Chiari syndrome with chronic celiac disease have been reported from North Africa. Meanwhile, few cases have also been reported from other countries like Spain, Argentina, Turkey India and Czech Republic [1,6,7]. To the best of our knowledge, we present the first reported case of BCS with CD in Pakistan.…”

“…However, investigation for MTHFR gene mutation could not be performed due to financial limitations. Since there is a prevalence of non-thrombotic etiology in the vast majority of BCS associated with CD, other triggering mechanisms like genetics, diet and environment should also be studied in depth [1].…”

“…Herein, we report a rare association between Budd-Chiari syndrome (BCS) and celiac disease (CD). BCS, exceptionally rare itself, involves the obstruction of hepatic veins as a result of non-thrombotic or thrombotic occlusion (around 80% have an underlying hypercoagulable state) without the presence of right heart failure, sinusoidal obstruction syndrome or constrictive pericarditis [1]. The cardinal clinical features of BCS are hepatomegaly, ascites, and abdominal pain.…”

Deep Venous Thrombosis and Bilateral Pulmonary Embolism Revealing Silent Celiac Disease: Case Report and Review of the Literature

“…Splenic vein thrombosis was reported in one case. Unusual places of thrombosis have been described such as LV thrombus in one case, central retinal vein thrombosis in one case, and two cases of cerebral vein thrombosis [ 7 – 24 ]. Among reported cases, patient median age was 33.1 years (range 18–53), with the majority of patients in the 4th decade of life (8/19).…”