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Disease Profile

Multiple endocrine neoplasia type 1

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.

1-9 / 100 000

US Estimated

Europe Estimated

Age of onset

All ages

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ICD-10

D44.8

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)

MEN1; Endocrine adenomatosis multiple; MEN 1;

Categories

Congenital and Genetic Diseases; Digestive Diseases; Endocrine Diseases;

Summary

Multiple endocrine neoplasia, type 1 (MEN1) causes the growth of tumors in both the endocrine system (the body's network of hormone-producing glands) and non-endocrine system. Symptoms of MEN1 include tumors of the parathyroid gland, the pituitary gland, and the pancreas, although other glands may be involved as well. These tumors are often "functional" and secrete excess hormones, which can cause a variety of health problems. Additional signs and symptoms of MEN1 may depend on the type of tumor present and which hormones are being secreted. The most common symptoms are cause by an overactive parathyroid gland and may include kidney stones; thinning of bones; nausea and vomiting; high blood pressure (hypertension); weakness; and fatigue.[1] MEN1 is caused by genetic variants in the MEN1 gene and is inherited in an autosomal dominant pattern. It is diagnosed based on the presence of two or more endocrine tumors in one person. The results of genetic testing can help confirm the diagnosis. Treatment for MEN1 is focused on early detection and prevention of tumors, and usually involves regular screening to allow for early diagnosis and treatment of endocrine tumors.[1] Treatment guidelines for MEN1 have been published.[2]

Symptoms

Multiple endocrine neoplasia, type 1 (MEN1) is characterized by several different types of endocrine and non-endocrine tumors. Symptoms of MEN1 include tumors of the parathyroid gland, the pituitary gland, and the pancreas, although other glands may be involved as well. These tumors are often "functional" and secrete excess hormones, which causes many of the different signs and symptoms of the condition. Non-endocrine tumors are also found in MEN1, including fatty tumors (lipomas) and tumors of the skin or the central nervous system (brain and spinal cord).[1]

Signs and symptoms of MEN1 vary and largely depend on which endocrine glands are affected.[1]

  • Parathyroid tumors are present in 90% of people with MEN1 by age 20-25 years and may cause fatigue, depression, weight loss, constipation, nausea, vomiting, dehydration, kidney stones, fragile bones, and hypertension.
  • Pituitary tumors can lead to headaches, vision problems, nausea and vomiting. In women, menstrual periods may become irregular or stop completely. Men may have decreased fertility, diminished sexual desire, and/or erectile dysfunction.
  • Stomach, bowel, or pancreas (also called the gastro-entero-pancreatic, or GEP tract) tumors can cause high blood sugar, weight loss, glossitis, anemia, diarrhea, blood clots, and skin rash.
  • Adrenal tumors can cause a variety of symptoms depending on the type of hormones they secrete, including high blood pressure, irregular heartbeat, panic attacks, headaches, diabetes, abdominal pain, weakness, excessive hair growth, and stretch marks.
  • Carcinoid tumors (slow-growing tumors that usually begin in the lining of the lungs or the digestive tract can cause flushing of the face and upper chest; diarrhea; and trouble breathing.

Tumor growth can occur at any age from childhood to old age. The tumors that develop in MEN1 are often benign; however, in some cases, they can become malignant (cancerous). Gastrinomas (a specific type of GEP tract tumor) and carcinoid tumors are the most likely to advance to cancer.[1][2]

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
Angiofibromas
0010615
Hypercalcemia
High blood calcium levels
Increased calcium in blood

[ more ]

 0003072
Impairment of activities of daily living
0031058
Parathyroid hyperplasia
Enlarged parathyroid glands
0008208
Primary hyperparathyroidism
0008200
30%-79% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

 0002027
Adrenocortical abnormality
0000849
Decreased male libido
0040306
Galactorrhea
Spontaneous milk flow from breast
0100829
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn

[ more ]

 0002020
Hypercalciuria
Elevated urine calcium levels
0002150
Hypergastrinemia
Elevated gastrin in the blood
Increased blood gastrin

[ more ]

 0500167
Impotence
Difficulty getting a full erection
Difficulty getting an erection

[ more ]

 0000802
Large cafe-au-lait macules with irregular margins
0005605
Multiple lipomas
Multiple fatty lumps
0001012
Peptic ulcer
Sore in the lining of gastrointestinal tract
0004398
Pituitary prolactin cell adenoma
0006767
Reduced bone mineral density
Low solidness and mass of the bones
0004349
Weight loss
0001824
Zollinger-Ellison syndrome
0002044
5%-29% of people have these symptoms
Abnormal circulating aldosterone
Abnormal plasma aldosterone
0040085
Adrenocortical carcinoma
0006744
Amenorrhea
Abnormal absence of menstruation
0000141
Anorexia
0002039
Confetti-like hypopigmented macules
0007449
Confusion
Disorientation
Easily confused
Mental disorientation

[ more ]

 0001289
Constipation
0002019
Cranial nerve compression
0001293
Decreased vigilance
0032044
Dehydration
0001944
Depressivity
Depression
0000716
Duodenal ulcer
0002588
Gingival fibromatosis
0000169
Goiter
Enlarged thyroid gland in neck
0000853
Growth hormone excess
0000845
Headache
Headaches
0002315
Hematemesis
Vomitting blood
0002248
Hypertension
0000822
Increased susceptibility to fractures
Abnormal susceptibility to fractures
Bone fragility
Frequent broken bones
Increased bone fragility
Increased tendency to fractures

[ more ]

 0002659
Insulinoma
0012197
Intestinal carcinoid
0006723
Lethargy
0001254
Melena
0002249
Meningioma
0002858
Nausea
0002018
Nephrolithiasis
Kidney stones
0000787
Osteolysis
Breakdown of bone
0002797
Pituitary growth hormone cell adenoma
0011760
Primary hypercortisolism
0001579
Proportionate tall stature
0011407
Short attention span
Poor attention span
Problem paying attention

[ more ]

 0000736
Shortened QT interval
0012232
Thyroid carcinoma
0002890
Vomiting
Throwing up
0002013
1%-4% of people have these symptoms
Atypical absence status epilepticus
0011151
Coma
0001259
Elevated calcitonin
0003528
Ependymoma
0002888
Glucagonoma
0030404
Increased serum serotonin

Cause

Multiple endocrine neoplasia, type 1 (MEN1) is caused by mutations in the MEN1 gene. MEN1 is a tumor suppressor gene which means that it encodes a protein that helps keep cells from growing and dividing too rapidly or in an uncontrolled way. Changes (mutations) in MEN1 result in a defective protein that is unable to carry out its normal role. This leads to the development of the many different types of tumors found in MEN1.[3][1]

Diagnosis

Yes, genetic testing is available for MEN1, the gene known to cause multiple endocrine neoplasia, type 1 (MEN1).[1] Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known.

The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

A diagnosis of multiple endocrine neoplasia, type 1 (MEN1) is based on the presence of two of the following endocrine tumors: parathyroid tumors; pituitary tumors; and/or stomach, bowel or pancreas (also called the gastro-entero-pancreatic, or GEP tract) tumors. People with only one of the tumors may also receive a diagnosis of MEN1 if they have other family members with the condition. Identification of a change (mutation) in the MEN1 gene can be used to confirm the diagnosis.[1][4]

In addition to a complete physical exam and medical history, laboratory tests that evaluate the levels of certain hormones in the blood or urine are often used detect the different types of tumors found in MEN1. Imaging studies such as computed tomography (CT scan), magnetic resonance imaging (MRI scan), and/or endoscopic ultrasound may be recommended to confirm the location and size of the tumors. Some people may also need a biopsy of the tumor to confirm the diagnosis.[1][4]

Multiple endocrine neoplasia, type 1 (MEN1) is diagnosed based on the presence of two or more endocrine tumors in one person. The results of genetic testing can help confirm the diagnosis, and can help identify people at risk for MEN1 who have not yet developed tumors.[2]

Treatment

Treatment for multiple endocrine neoplasia, type 1 (MEN1) is focused on early detection and prevention of tumors. Treatment generally includes regular screening to allow for early diagnosis and treatment of endocrine tumors. This screening begins in early childhood and continues for life.[1] Treatment guidelines for MEN1 have been published.[2]

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 Supporting this Disease

    Social Networking Websites

    • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

      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

      • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
      • Genetics Home Reference (GHR) contains information on Multiple endocrine neoplasia type 1. This website is maintained by the National Library of Medicine.
      • The National Endocrine and Metabolic Diseases Information Service, a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), provides information on this topic. Click on the link to view the information on this topic.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        In-Depth Information

        • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • The Merck Manual for health care professionals provides information on Multiple endocrine neoplasia type 1.
        • 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 Multiple endocrine neoplasia type 1. Click on the link to view a sample search on this topic.

          References

          1. Giusti F, Marini F, Brandi ML. Multiple Endocrine Neoplasia Type 1. GeneReviews. Updated Dec 14, 2017; https://www.ncbi.nlm.nih.gov/books/NBK1538/.
          2. Thakker RV, Newey PJ, Walls GV, Bilezikian J, Dralle H, Ebeling PR, et al. Endocrine Society. Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J Clin Endocrinol Metab. Sep 2012; 97(9):2990-3011. https://pubmed.ncbi.nlm.nih.gov/22723327/.
          3. Multiple Endocrine Neoplasia. Genetic Home Reference. August 2013; https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia.
          4. Multiple Endocrine Neoplasia, Type 1. NORD. May 2012; https://rarediseases.org/rare-disease-information/rare-diseases/byID/1229/viewFullReport.
          5. Marx SJ. Recent Topics round Multiple Endocrine Neoplasia Type 1. J Clin Endocrinol Metab. Apr 1, 2018; 103(4):1296-1301. https://pubmed.ncbi.nlm.nih.gov/29897580/.

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