Ménétrier's Disease and Its Atypical Presentation in Four Siblings

Ménétrier's disease is a rare, acquired, premalignant disorder of the stomach distinguished by hypertrophic giant mucosal folds in the proximal part of the stomach (body and fundus), diminished acid secretion and excessive mucous production, resulting in hypoalbuminemia. Menetrier's is also known as hypoproteinaemic hypertrophic gastropathy and giant hypertrophic gastritis. We present a case of four siblings who presented between 2010 and 2017 with symptomatic iron deficiency anaemia or upper gastrointestinal symptoms with confirmed Ménétrier's disease. The etiology of Ménétrier's disease is unknown but it has been linked to raised TGF-α (transforming growth factor alpha protein) in the gastric mucosa causing increased signalling of epidermal growth factor. It is also associated with infections such as cytomegalovirus and Helicobacter pylori. Despite these associations, there have been cases without any of these viruses detected.  Diagnosis is usually made by barium swallow or endoscopic evaluation, which characteristically shows thickened gastric folds, while the biopsies' hallmark feature is massive foveolar hyperplasia. We present a case series of four siblings who presented between 2010 and 2017 with symptomatic iron deficiency anaemia or upper gastrointestinal symptoms with confirmed Ménétrier's disease.