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Disease Profile

Menetrier disease

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Childhood

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ICD-10

K29.6

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Giant hypertrophic gastritis; Giant hypertrophic gastropathy; Gastroenteropathy, protein losing;

Categories

Digestive Diseases

Summary

Ménétrier disease is a gastrointestinal condition characterized by overgrowth of the mucous cells (foveola) in the mucous membrane lining the stomach, causing enlarged gastric folds.[1] This leads to excessive mucus production, causing protein loss from the stomach and low or absent levels of stomach acid.[2] Symptoms may include pain in the upper middle region of the stomach, nausea, vomiting, and diarrhea.[1] The cause of Ménétrier disease is largely not known, although some cases are associated with infection, particularly pediatric cases, which can be caused by CMV infections. Treatment may include medications such as cetuximab and gastrectomy in severe cases.[1][2]

Symptoms

The symptoms of Ménétrier disease may vary from individual to individual. While some individuals may not experience any symptoms, the most common symptom is pain in the upper middle region of the stomach (epigastric pain). Other symptoms may include:[1][3]

  • Weight loss
  • Nausea and vomiting
  • Gastrointestinal bleeding
  • Diarrhea
  • Edema

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Giant hypertrophic gastritis
0005246
30%-79% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Asthenia
0025406
Helicobacter pylori infection
0005202
Hypoalbuminemia
Low blood albumin
0003073
Hypoproteinemia
Decreased protein levels in blood
0003075
Malnutrition
0004395
Nausea
0002018
Peripheral edema
0012398
Vomiting
Throwing up
0002013
Weight loss
0001824
5%-29% of people have these symptoms
Anorexia
0002039
Diarrhea
Watery stool
0002014
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn

[ more ]

0002020
Gastrointestinal hemorrhage
Gastrointestinal bleeding
0002239
Hypochromic microcytic anemia
0004840
Multiple gastric polyps
0004394
Poor appetite
Decreased appetite
0004396
Stomach cancer
0012126
1%-4% of people have these symptoms
Thromboembolism
0001907
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Vascular dilatation
Wider than typical opening or gap
0002617

Cause

The exact cause of Ménétrier disease is unknown. However, it has been associated with cytomegalovirus (CMV) infection in children and Helicobacter pylori (H. pylori) infection in adults. In addition, some have suggested that overexpression of a type of growth factor called the transforming growth factor-α, which is found in a specific part of the stomach, called the superficial gastric epithelium, might play a role.[4][2]

Treatment

No one treatment has proven effective for all patients with Ménétrier disease. In milder cases, treatment may be supportive with a recommended high protein diet to offset loss of protein. Other treatment options for moderate or more severe cases may include: Treatment of underlying CMV/Helicobacter pylori (H. Pylori) infection; medications such as Gastric antisecretory agents (protein pump inhibitors), octreotide, and cetuximab; and a gastrectomy.[3]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Providing General Support

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

      In-Depth Information

      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Menetrier disease. Click on the link to view a sample search on this topic.

        References

        1. Nicholas J. Talley, John Y. Kao. Menetrier Disease. NORD. 2010; https://rarediseases.org/rare-diseases/menetrier-disease/. Accessed 6/1/2016.
        2. Ménétrier’s Disease. National Institute of Diabetes and Digestive and Kidney Disease. March 2014; https://www.niddk.nih.gov/health-information/health-topics/digestive-diseases/menetriers-disease/Pages/facts.aspx.
        3. Mark Feldman, Pamela J Jensen, MD. Large gastric folds: Hyperplastic and nonhyperplastic gastropathies. UpToDate. April 2016; https://www.uptodate.com/contents/large-gastric-folds-hyperplastic-and-nonhyperplastic-gastropathies?source=see_link.
        4. Chapter 47 Stomach. Townsend: Sabiston Textbook of Surgery, 18th ed.. Philadelphia: Saunders, An Imprint of Elsevier; 2007;

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