Ménétrier's disease

Ménétrier's disease, also known as giant hypertrophic gastritis, is a rare, acquired, premalignant disorder of the stomach characterized by the massive enlargement of the gastric mucosal folds. The disease is named after the French physician Pierre Ménétrier, who first described it in 1888. Ménétrier's disease primarily affects the body and fundus of the stomach, leading to protein loss, malnutrition, and, in some cases, the development of gastric cancer.

Etiology and Pathogenesis

The exact cause of Ménétrier's disease remains unclear, but it is believed to involve an overproduction of transforming growth factor alpha (TGF-α), which stimulates gastric mucosal growth. This condition has been associated with Helicobacter pylori infection in some patients, suggesting a possible infectious etiology. Additionally, there is evidence to suggest a genetic predisposition to the disease.

Clinical Features

Patients with Ménétrier's disease often present with nonspecific symptoms, including nausea, vomiting, abdominal pain, and weight loss. One of the hallmark features of the disease is protein-losing enteropathy, due to the loss of protein from the enlarged gastric folds into the stomach, which can lead to edema and hypoalbuminemia.

Diagnosis

The diagnosis of Ménétrier's disease is primarily based on the clinical presentation and endoscopic findings of enlarged gastric folds. Endoscopy with biopsy is essential for confirming the diagnosis and ruling out gastric cancer. Histologically, Ménétrier's disease is characterized by foveolar hyperplasia with glandular atrophy.

Treatment

Treatment options for Ménétrier's disease are limited and primarily symptomatic. Proton pump inhibitors (PPIs) are often used to reduce gastric acid secretion and relieve symptoms. In cases associated with Helicobacter pylori infection, eradication of the bacteria may improve symptoms. For severe cases, partial gastrectomy may be considered. Recently, treatments targeting the epidermal growth factor receptor (EGFR), such as cetuximab, have shown promise in managing the disease.

Prognosis

The prognosis of Ménétrier's disease varies. While some patients may experience spontaneous remission, others may develop complications such as gastric cancer. Regular monitoring and follow-up are essential for managing the disease and detecting any malignant transformation early.

Epidemiology

Ménétrier's disease is rare, with a higher prevalence in males than in females. It is most commonly diagnosed in adults, although pediatric cases have been reported.

NIH genetic and rare disease info

• NIH info on Ménétrier's disease

Ménétrier's disease is a rare disease.