Ménétrier disease

Ménétrier disease, also known as giant hypertrophic gastritis or hypertrophic gastropathy, is a rare acquired premalignant condition of the stomach characterized by massive enlargement (hypertrophy) of the gastric mucosal folds (rugae) in the body and fundus of the stomach. The disease primarily affects the gastrointestinal system and is caused by overexpression of transforming growth factor-alpha (TGF-α), which signals through the epidermal growth factor receptor (EGFR), leading to excessive proliferation of the surface mucous cells and loss of parietal and chief cells in the gastric glands. Key clinical features include epigastric pain, nausea, vomiting, peripheral edema, and significant weight loss. A hallmark of the disease is protein-losing gastropathy, in which excessive mucus production and increased gastric mucosal permeability lead to substantial loss of serum proteins (particularly albumin) into the gastric lumen, resulting in hypoalbuminemia and consequent peripheral edema. Gastric acid secretion is typically reduced (hypochlorhydria). Patients are at increased risk of developing gastric cancer, and therefore require ongoing surveillance. In children, the disease is often self-limiting and may be associated with cytomegalovirus (CMV) infection, whereas in adults it tends to follow a chronic progressive course. Treatment options include supportive care with high-protein diet, acid suppression therapy, and management of hypoalbuminemia. Cetuximab, a monoclonal antibody targeting EGFR, has shown efficacy in some patients and represents a targeted pharmacological approach. However, partial or total gastrectomy remains the definitive treatment for severe or refractory cases and for those with suspected malignant transformation. Eradication of Helicobacter pylori or treatment of CMV infection, when identified, may lead to disease remission in some patients.

Common questions about Ménétrier disease