Ménétrier's disease

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Not to be confused with Ménière's disease.
Ménétrier disease
Classification and external resources
Menetrier.jpg
Gross specimen of biopsy of stomach in Ménétrier disease. In this case, the substantial pit hyperplasia makes the large rugal folds appear to be covered by a myriad of polyps resembling hyperplastic polyps. The muscularis propria is the folded structure at the bottom center.
ICD-10 K29.6
ICD-9 535.2
OMIM 137280
DiseasesDB 8001
MeSH D005758

Ménétrier disease (also known as hypoproteinemic hypertrophic gastropathy; named after a French physician Pierre Eugène Ménétrier, 1859–1935), is a rare, acquired, premalignant disease of the stomach characterized by massive gastric folds, excessive mucous production with resultant protein loss, and little or no acid production. The disorder is associated with excessive secretion of transforming growth factor alpha (TGF-α).[1]

Presentation[edit]

Mean age of presentation is 30 to 60 years. Individuals with the disease present with upper abdominal pain, at times accompanied by nausea, vomiting, loss of appetite, and weight loss. Occult gastrointestinal bleed may occur, but overt bleeding is unusual and, when present, is due to superficial mucosal erosion. Twenty to 100% of patients, depending on time of presentation, develop a protein-losing gastropathy accompanied by hypoalbuminemia and edema.[2]

Symptoms and pathological features of Ménétrier disease in children are similar to those in adults, but pediatric disease is usually self-limited and often follows respiratory infection.[3]

The risk of gastric adenocarcinoma is increased in adults with Ménétrier disease.[3][4]

Cause[edit]

The cause of Ménétrier disease is unknown, but it has been associated with CMV infection in children and H. pylori infections in adults.[4] Additionally, increased TGF-α has been noted in the gastric mucosa of patients with the disease.[1]

Pathology[edit]

The stomach is characterized by large, tortuous gastric folds in the fundus and body of the stomach, with antrum generally spared, giving the mucosa a cobblestone or cerebriform (brain-like) appearance.[4] Histologically, the most characteristic feature is massive foveolar hyperplasia (hyperplasia of surface and glandular mucous cells).[2] The glands are elongated with a corkscrew-like appearance and cystic dilation is common. Inflammation is usually only modest, although some cases show marked intraepithelial lymphocytosis. Diffuse or patchy glandular atrophy, evident as hypoplasia of parietal and chief cells, is typical.[3]

Although ICD-10 classifies it under "Other gastritis" (K29.6), and the lamina propria may contain mild chronic inflammatory infiltrate, Ménétrier disease is not considered a form of gastritis.[2] It is rather considered as one of the two most well understood hypertrophic gastropathies; the other being Zollinger-Ellison syndrome.[3]

Diagnosis[edit]

The differential diagnosis of large gastric folds includes Zollinger-Ellison syndrome, malignancy, infectious etiologies (CMV, histoplasmosis, syphilis), and infiltrative disorders such as sarcoidosis.[2]

Large gastric folds are readily detectable by either radiographic (barium meal) or endoscopic methods. Endoscopy with deep mucosal biopsy (and cytology) is required to establish the diagnosis and exclude other entities that may present similarly. A nondiagnostic biopsy may lead to a surgically obtained full-thickness biopsy to exclude malignancy.[2]

Twenty-four-hour pH monitoring reveals hypochlorhydria or achlorhydria, and a chromium-labelled albumin test reveals increased GI protein loss.[4] Serum gastrin levels will be within normal limits.

Treatment[edit]

Medical therapy with anticholinergic agents, prostaglandins, PPIs, prednisone, and H2 receptor antagonists yields varying results. Anticholinergics decrease protein loss. A high-protein diet should be recommended to replace protein loss in patients with hypoalbuminemia. Ulcers should be treated with the standard approach. Severe disease with persistent and substantial protein loss may require total gastrectomy. Subtotal gastrectomy is performed by some; it may be associated with higher morbidity and mortality secondary to the difficulty in obtaining a patent and long-lasting anastomosis between normal and hyperplastic tissue. In adults, there is no FDA approved treatment other than gastrectomy and a high-protein diet.

CT abdomen, coronal section, showing characteristic large rugal folds in the stomach. A cyst is also seen in the liver.

More recently, agents that block TGF-α-mediated activation of the epidermal growth factor receptor (EGFR) have shown promise. Cetuximab, a monoclonal antibody against EGFR, has been used in compassionate use for treatment of Ménétrier's disease.[5]

Pediatric cases are normally treated for symptoms with the disease clearing up in weeks to months.

References[edit]

  1. ^ a b Coffey RJ et al.: Menetrier disease and gastrointestinal stromal tumors: hyperproliferative disorders of the stomach. J Clin Invest. 2007;117(1):70–80. doi:10.1172/JCI30491
  2. ^ a b c d e Harrison's Principle of Internal Medicine, 18e, pg 2459
  3. ^ a b c d Robbins and Cotran, Pathological Basis of Disease, 8e, pg 782
  4. ^ a b c d Townsend et al., Sabiston Textbook of Surgery, 18e, pg 1272
  5. ^ Burdick JS, Chung E, Tanner G, et al. (December 2000). "Treatment of Ménétrier's disease with a monoclonal antibody against the epidermal growth factor receptor". N. Engl. J. Med. 343 (23): 1697–701. doi:10.1056/NEJM200012073432305. PMID 11106719.