Severe Ascites in Common Variable Immunodeficiency

Abstract

Liver disease is one of the possible clinical manifestations of common variable immunodeficiency and can range from mild hepatomegaly and persistent elevation of liver enzymes to cirrhosis, portal hypertension, and nodular regenerative hyperplasia. The last one is the most common histologic presentation of liver involvement by common variable immunodeficiency and its clinical spectrum can range from asymptomatic to cholestasis, liver cirrhosis, or idiopathic non-cirrhotic portal hypertension, with the severe manifestations being less recognised. We present a case of a 48-year-old woman who was referred for an internal medicine consultation for evaluation of rapidly progressing (span of three months) large-volume ascites and marked asthenia. The patient had a past medical history of common variable immunodeficiency and a recent episode of severe haemolytic anaemia. Peritoneal fluid analyses identified portal hypertension as the cause of the ascites. Abdominal Doppler ultrasound and contrasted abdominal computed tomography confirmed the presence of permeable hepatic and portal veins. Liver biopsy revealed regenerative nodular hyperplasia without cirrhosis. A diagnosis of idiopathic non-cirrhotic portal hypertension secondary to common variable immunodeficiency was made. Treatment was adjusted with considerable improvement in ascites. In conclusion, idiopathic non-cirrhotic portal hypertension is a possible and often overlooked complication in patients with common variable immunodeficiency and is an exclusion diagnosis that requires a high level of suspicion, especially in patients with ascites.

Keywords: ascites; common variable immunodeficiency; hepatology; idiopathic non-cirrhotic portal hypertension; nodular regenerative hyperplasia.

Figure 1. Coronal section of abdominal computed tomography showing hepatomegaly (white arrow), splenomegaly (black arrow), and free peritoneal effusion (yellow arrow).

Figure 2. Cross-section of abdominal computed tomography showing hepatomegaly (white arrow), splenomegaly (black arrow), and free peritoneal effusion (yellow arrow).

Figure 3. Liver biopsy, Gordon and Sweets' staining, 200x

On histological evaluation, there were 27 portal spaces available with mild and focal lymphoplasmacytic inflammatory infiltrate, without injury to its constituents, and no interface activity. There was no fibrosis. The liver parenchyma exhibited nodulation on Gordon and Sweets' staining, with central-hypertrophied hepatocytes surrounded peripherally by atrophic hepatocytes, sometimes compressing portal spaces. The changes found translate nodular regenerative hyperplasia and disorders of efferent venous flow/low output compatible with non-cirrhotic portal hypertension.