Lymphopenia: a clue to diagnose primary intestinal lymphangiectasia

Abstract

Primary intestinal lymphangiectasia (PIL) is a rare protein-losing gastroenteropathy characterized by dilatation of the intestinal lymphatics and loss of lymph fluid into the gastrointestinal tract, leading to the development of hypoproteinaemia, oedema, lymphocytopenia, hypogammaglobinaemia, and immunologic abnormalities. We report a series of 4 children from Bangalore, India presenting with anasarca, diarrhoea, and hypoproteinaemia. All four patients were confirmed to have of PIL on histopathology. We retrospectively reviewed the case records of children diagnosed with primary intestinal lymphangiectasia presenting to department of pediatric gastroenterology within the time frame of July 2015 to September 2018. Four patients were diagnosed with primary intestinal lymphangiectasia. All of them presented with features of protein losing enteropathy (generalized oedema, ascites and low albumin), chronic diarrhoea, lymphopenia, hypercalcemia, and hypogammaglobulinemia. Endoscopically mucosa was normal in two patients and showed Snowflake appearance in other 2 patients. Intestinal biopsies were characteristic of lymphangiectasia in all four patients.