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Multiple Endocrine Neoplasia Type 1 (MEN-1)

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Overview

What is Multiple Endocrine Neoplasia Type 1 (MEN1)? MEN-1 is a group of rare genetic disorders that mostly affects the system in the body responsible for producing hormones - the endocrine system. The endocrine system is made up of several glands, which can become too active and form a tumor, sometimes leading to cancer. Endocrine glands are located around the body, and include the pineal and pituitary glands (in the brain), adrenal gland (near the kidneys), thyroid gland (neck), thymus (near the heart), pancreas (near the stomach), and ovary (women)/testis (men) (reproductive system). MEN-1 affects about 1 in 30,000 people. Other forms of multiple endocrine neoplasia such as type 2 and type 4 have different symptoms.

MEN-1 usually involves growths (or tumors) known as neoplasia in two or more endocrine glands, and growths can also develop in other parts of the body. These can lead to cancer, and if this happens MEN-1 can be life-threatening. The most common location of MEN-1 tumors is in the parathyroid gland in the neck, usually by adolescence or early adulthood. Other parts of the endocrine system affected are the pituitary gland and pancreas (known as gastrinoma).

For people diagnosed with MEN-1, or found to have a MEN1 genetic risk, regular check-ups are strongly recommended. This includes the following:

  • From age 5 years: testing is recommended EVERY year to look for abnormal chemical changes in the endocrine system.
  • From age 8 years: blood tests to monitor calcium levels, and other measures of hormone changes.
  • From age 20 years: another hormone test called 'gastrin concentration', to further check endocrine systems.
  • CT scans (computerized tomography) of the chest, and a scan known as somatostatin receptor scintigraphy (SRS) octreotide scan can be used to find abnormal growths and are often considered.
Every 3-5 YEARS, several imaging tests are also recommended. These include:
  • From age 5 years: Magnetic resonance imaging (MRI) of the head
  • From age 20 years: MRI (magnetic resonance imaging) or CT scan of the abdomen


  • The most common treatment related to MEN-1 is a surgery called parathyroidectomy. This involves removing most or all of the parathyroid glands. The age at which a patient receives a parathyroidectomy depends on a number of factors and differs from patient to patient. Sometimes, a surgery called thymectomy is carried-out at the same time, which removes the thymus, and plays an important role in the immune system. Other treatments related to MEN1 will depend on whether they have other growths and what types. These are discussed in the Treatment section. Changes in the MEN1 gene are strongly associated with a risk of developing multiple endocrine neoplasia type-1. However, improved understanding of the disease, plus early diagnosis and treatments have improved health outcomes. Image created by Iconarray.com. Risk Science Center and Center for Bioethics and Social Sciences in Medicine, University of Michigan. Accessed 2017-04-07.

    What is the genetic test?
    Mutations in a gene called MEN1 are known to to cause MEN-1. Genetic testing allows us to identify people at risk of developing the condition. There is a large risk that people with known genetic risk factors in MEN1 will develop tumors in the endocrine system often early in life. Early identification of this risk allows us to begin monitoring at a young age, which can significantly reduce the risk of cancer.

    How will this affect my health care?
    If a person is found to a genetic risk of developing MEN-1, yearly blood tests and regular scans will look for cancer or for any abnormal growths.

    Who is at risk?
    MEN1 affects about 1 in 30,000 people. However, if a person’s mother or father has a change in the gene that is linked to MEN-1, he or she has a 50% of inheriting this risk (i.e. a 1 in 2 chance). Similarly, if a person’s brother, sister has a MEN1 risk gene, they will have a 50% risk of inheriting this risk. If a person's other relatives have MEN-1, they are also at increased risk of developing the condition.

    Does my ancestry affect my risk?
    There is no strong evidence linking MEN-1 with ancestry.

    More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Treatment

Treatment

What are the treatments for MEN-1?
Consultation: To decide on the best treatment, all of the following are recommended:

  • Referral to an endocrinologist - a doctor that specializes in the endocrine system. The endocrinologist can order a range of tests related to hormone levels and evidence of tumors.
  • Consultation with a clinical geneticist or genetic counselor, who can discuss genetic risks.


Regular Screening: For people diagnosed with MEN-1, or found to have a MEN1 genetic risk, regular check-ups are strongly recommended. This includes the following:
  • From age 5 years: testing is recommended EVERY year to look for abnormal chemical changes in the endocrine system. These include checking levels of prolactin, which is made in the pituitary gland, and checks of hormone and insulin levels.
  • From age 8 years: blood tests to monitor calcium levels, and other hormone measures of hormone changes, including levels of glucagon, chromogranin–A, pancreatic polypeptide, and vasocative intestinal peptide.
  • From age 20 years: another hormone test called 'gastrin concentration', to further check endocrine systems.
  • CT scans (computerized tomography) of the chest, and a scan known as somatostatin receptor scintigraphy (SRS) octreotide scan can be used to find abnormal growths and are often considered.
Every 3-5 YEARS, several imaging tests are also recommended. These include:
  • From age 5 years: Magnetic resonance imaging (MRI) of the head
  • From age 20 years: MRI (magnetic resonance imaging) or CT scan of the abdomen


  • Managing symptoms: The parathyroid glands:By the age of 50 years (and often before), nearly all patients with MEN-1 have too much activity in the parathyroid. This is known as hyperparathyroidism. Surgery is typically required, and this involves removing most or all of the parathyroid glands, an operation known as parathyroidectomy. The age at which a patient with MEN-1 receives a parathyroidectomy depends on a number of factors, which differ from patient to patient in terms of age and symptoms. Parathyroid tumors, which are almost always benign (not cancer-forming), are removed when the level of calcium (albumin-corrected serum calcium) becomes too high (12 mg/dl or higher). Other factors that affect when the surgery is performed is evidence of bone loss, or if there is evidence of kidney damage or stones.

    Sometimes, a surgery called thymectomy is carried-out at the same time as parathyroid gland removal. This removes the thymus, which plays an important role in the immune system. Thymectomy, even without clear thymus problems may be performed at the same time as parathyroidectomy, especially in men with MEN-1 syndrome who are smokers or have relatives with thymic cancer.

    Other treatments related to MEN-1 will depend on other growths/tumors a patients may have. These are mostly treated with surgery, or by drug treatments that target a tumor. These are discussed below.

    • Pancreas - Islet cell tumors: The pancreas is involved in digesting food and also plays a major role in regulating blood-sugar levels by making insulin. If the pancreas is removed by surgery, the body is not able to make insulin, which leads to diabetes. Diabetes is linked to many health problems, such as heart disease, and damage to the eyes, kidneys, and other organs. Doctors must therefore balance the possible benefits of pancreas surgery against the health risks of diabetes. Sometimes tumors in the pancreas that have spread to the liver can be treated with a drug called Octreotide or Sandostatin. This has similar effects to the hormone somatostatin. If tumors in the pancreas have become cancerous, there are usually removed by surgery as soon as possible.
    • Pituitary tumors: Tumors in the pituitary gland often produce a hormone called prolactin, and can be managed with a type of drug known as a dopamine agonists. The most common drug of this type is called cabergoline. Dopamine is a chemical produced by the brain and plays an important role in sending messages throughout to help with a very wide range of body functions. Cabergoline and similar drugs help to produce similar effects. Sometimes tumors can affect how a hormone called adrenocorticoptropin is produced. This hormone is also involved in many body functions, including helping to respond to stress. These tumors can be treated with surgery or with hormone therapy.
    • Other tumors: There are many other different types of tumors linked to MEN-1, all requiring different types of treatment, depending on symptoms and type of tumor. Your doctor should discuss treatment options with you to help chose the best health management for you.

    Can treatments cause any problems?

    • Any surgery that requires a general anesthetic can carry a risk to the heart, or of chest infection. These risks are not great for people of a young age, but do increase with older age.
    • Parathyroidectomy can damage vocal cords, which can make the voice sound weak, and can also make it difficult to breathe. Parathyroidectomy can also lead to a drop in levels of calcium in the body, which can lead to muscle spasms or a feeling of pins-and-needles.
    • For thyroid surgery (thyroidectomy), a common problem is hypothyroidism, where the thyroid does not produce enough hormone. This problem can be managed by taking the drug Levothyroxine. Other problems are bleeding and blocked airways. Rare problems include infection after surgery, damaged nerves in the neck, and a hoarse voice that may be permanent.
    • Levothyroxine can cause sweating, anxiety, nausea, and other problems. Doses of levothyroxine that are too high can lead to heart palpitations, nausea, stomach pain, anxiety, and a range of other side effects. Allergic reactions can cause breathing difficulties and swelling, especially to the tongue and face.


    • To Avoid: Where a person has an adrenal gland tumor (pheochromocytoma) certain drugs are likely to cause health problems. These include dopamine D2 receptor antagonists (such as metoclopramide and veralipride) and β-adrenergic receptor antagonists (beta-blockers).

      Other drugs that may cause problems include some types of antidepressants, monoamine oxidase inhibitors, sympathomimetics (such as ephedrine), and types of peptide and corticosteroid hormones.
      More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Genetic Test

Why do a genetic test?
People are at risk of developing MEN-1 because they inherit a faulty gene that causes it. Genetic testing tells us who is most at risk for developing the condition. Testing for certain genes is particularly important if they are considered to be 'medically actionable' - meaning test results can be used to improve health care.

In the embedded video, Dr. Dan Roden of Vanderbilt University discusses how genetic testing has begun to influence treatment of patients.

What is the test?
There are several types of genetic tests for risk of MEN-1. All genetic tests look at your DNA to try to identify faulty genes previously associated with MEN-1.

Many of the people who use this website are patients in hospitals who are part of the eMERGE network. These hospitals are using DNA sequencing to test patients for a number of diseases, including MEN-1, as recommended by the American College of Medical Genetics and eMERGE network members. Test results found to be medically ‘actionable’ (meaning they can be used to in patient health care) will be returned to patients.

I am concerned whether I should be tested or not, what should I do?
The decision to be tested might be one of the most important decisions you have to make. There are many things you may want to consider. For some people, genetic testing can have positive health benefits, while others may feel a lot of stress and worry. You can read more about these issues in the Concerns & Risks section. It may help to think about testing for a while before making a decision. You may also find it helpful to discuss issues with those close to you, or with your doctor/health professional.

What will the test result mean?
This test will tell your doctor whether you are at risk of developing MEN-1. We test for a number of other diseases, as recommended for testing by the American College of Medical Genetics and the eMERGE network. If you are found to be at risk, your doctor or genetic counselor should help you understand your health care options.

What happens if I am found to be at risk?
If you are found to be at risk for any of the diseases that we test for, a health professional at your local site will attempt to contact you as soon as possible. Once we contact you, your doctor or genetic counselor should help you understand your health care options.

What happens if I am NOT found to be at risk?
If you are found NOT to be at risk for any of the diseases that we test for, you will likely NOT be contacted. However, a small number of patients may receive a medical report with results, while other patients may be re-contacted about another research study

If you have not been rec-contacted, please DO NOT ASSUME that you have been tested. There are a number of reasons testing may not have happened yet. For example, studies can sometimes take a very long time to complete, and DNA samples are often not usable because of quality-control issues.

How is the test being performed?
Testing is performed on your DNA, usually from a blood sample. For many patients, your hospital or treatment center may already have some of your DNA stored in a biobank. You may be asked for an additional sample or be asked to give us permission to do testing on the existing samples.

Will it hurt?
For some patients, we may need an additional blood sample. Taking blood may cause some pain, bleeding or bruising at the spot where the needle enters your body. Rarely, taking blood may cause fainting or infection.

Is it safe?
There is a risk that you may experience pain or bleeding if you need to give an additional blood sample. Risks concerning privacy are discussed under Concerns & Risks.

How long will I have to wait for results?
Unfortunately, we cannot give an accurate estimate for the time you will have to wait for results - this will depend on the resources available at the location where you receive treatment and were tested.

Is this a standard test?
Although increasingly more common, this test is not yet standard, and is typically offered as part of a research study.

What type of test is this?

  • Is this test intended to help make a diagnosis? Yes
  • Is this test intended to predict a family history of disease? Yes
  • Is this test intended to check if I am a carrier for a particular disease? Yes
  • Is this test intended to screen for genetic disorders? Yes
  • Is this test intended to screen for disorders related to pregnancy? No
  • Is this test intended to screen for disorders related to newborns? No

Will I need to have this test done more than once?
No, you should not need to have this test done more than once. You will need to keep track of your testing result in order to share with all of your doctors, including those you see at other medical care centers.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Family

Will my genetic test results affect my family?
Your genetic test results may affect your family. In the embedded video, Maureen Smith, a researcher at Northwestern University, recommends first discussing genetic test results with your doctor. Your doctor may refer you to a genetic counselor, who can help you understand test results and guide you toward brochures and websites that can provide information for both you and your family.

  • Before your genetic test: Because genetic information is inherited, it is important to be aware that your genetic test results are often relevant to your family members as well. Results may indicate that you are at risk, and/or that you are a carrier. Before you have a genetic test, it can be a good idea to think about if and how you would like to share results with your family. Your doctor or genetic counselor should be able to provide more information about this.
  • After your genetic test: For many of the diseases we test for, genetic test results may be relevant to your family members, as well as to you. You may be at risk, and/or you may be a carrier. If you already have results, it is again important to think about sharing them with family. Again, your doctor or genetic counselor should be able to offer advice on how genetic testing may affect your family members.

Can you (briefly) explain heritability?
We each have about 24,000 genes, which carry the instructions for making and maintaining our bodies. For each gene we typically have two copies – one inherited from each parent. If genetic test results suggest you are at risk of developing a heritable disease, you will have inherited the risk from one or both your parents. Your brothers, sisters, children, parents, and other relatives may also be at risk of developing the same disease.
There are several ways we can inherit a genetic disease, which relates to whether it is recessive or dominant.

  • For a dominant condition, only one copy of a gene needs to be faulty to cause a disease. In this case, if you have one copy of a faulty gene, you may be at high risk of developing the disease. You could pass this faulty gene to one your child or children. MEN-1 is a dominant condition.
  • For a recessive condition BOTH copies of a gene must be faulty to cause a disease. In this case, if a person has only one copy of a faulty gene, they may not be at much greater risk. However, they may pass the faulty gene to their children. Again, this person is called a carrier. MEN-1 is NOT a recessive condition.
Please note that the Resources section provides links to a number of websites that provide a more detailed explanation of inheritance. Learn.Genetics at the University of Utah have an explanation, which we find quite good – you can check it out here.

What is a carrier?
As described above, each of us has two copies of each gene. For recessive genetic conditions, BOTH copies of the gene need to be faulty for the person to be at risk of developing the disease. If a person inherits one faulty copy and one normal copy, they are called a carrier. Although they should not be at greater risk, they may pass the faulty gene copy to their child or children. If they do, and the child also inherits a faulty gene copy from the other parent, that child will be at risk of developing the disease.

What family members could be affected?
If you have MEN-1, there is a 50% your child will too. Other family members are also at a much higher risk of having MEN-1.

My children are under 18 years of age – should they be tested?
The American College of Medical Genetics recommend testing children for most of the diseases listed on this website, including MEN-1. Early treatment to fight MEN-1 is possible in children of three years of age, or sometimes younger, and testing is appropriate to guide treatment.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Concerns & Risks

What Should I Do If I Have Concerns About Genetic Test Results?
If you are concerned about genetic test results you have received, you should discuss your concerns with your doctor. Your doctor should be able to explain results to you, and may recommend you to a genetic counselor or another doctor that can further help you understand your results. Maureen Smith, a researcher at Northwestern University, discusses these concerns in the embedded video.

Is there a reason why I may be a specific risk?
For most of the disorders discussed on this site, the American College of Medical Genetics recommends genetic testing for individuals with available genetic data.

Are there any implications for having children?
Yes, please see the Family section

Can I expect to experience emotional consequences related to my test result?
A range of reactions are possible and normal. Some patients may experience anxiety or other negative reactions related to genetic testing and results. If this is the case, please discuss with your doctor, who can address your concerns and refer you another health professional if required.

Can I expect to experience social consequences related to my test result?
Some people may feel that there is a stigma attached to having a genetic disease. If you do experience or anticipate any negative social reactions, please discuss with your doctor who can address your concerns.

Can I expect to experience an increase in anxiety?
Many individual experience increased anxiety related to genetic testing. Again, please discuss with your doctor if this is the case.

Are there any implications in terms of discrimination arising from the test result?
Health insurance companies are prevented by law from discriminating against you based on your genetic test results. However, the same law does not apply to long-term disability insurance or to life insurance. Maureen Smith, a researcher at Northwestern University discussed these issues in the video on this page.

If I am found to be at increased risk for developing a disease, are there similar health implications for my family?
Yes, your results may have similar health implications for your family. Please see the Family section.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Sharing

Should I tell other health care providers about my test result?
We do recommend that you share this information with your health care providers. However, as explained by Maureen Smith, a researcher at Northwestern University, what you decide to do with your results is up to you.

Who will see my test results?
People who have access to your medical record will be able to see your genetic test result. This may include health professionals such as doctors, nurses, pharmacists, and genetic counselors. However, health professionals from other centers or hospitals will likely not have access to your results.

Should my other family members be tested?
If you are found to be at risk for a heritable genetic disease, your family may also be at risk. We discuss this further in the Family section.

Will this affect my health insurance?
No, your health insurance will not be affected by this test result. However, as discussed below by Maureen Smith, a researcher at Northwestern University, your life insurance and other areas may be affected.

Who can I contact if they have any more questions?
You can contact your local center, where you received the test. The Resources section also includes a lot of websites that we recommend.

Is it there a risk to my privacy?
Research that uses information from medical records and that involves genetic testing can affect your privacy. Your participation in this research will be held strictly confidential, and only coded numbers will be used to identify specimens and research records. While it is impossible to absolutely guarantee that information in our secure system will never be known by others, we are taking every possible precaution to see that this does not happen.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Resources

We are compiling a list of websites to help you understand genetics and genetic test results. If you would like to suggest other resources for this section, please feel free to This email address is being protected from spambots. You need JavaScript enabled to view it.!
INFORMATION ABOUT MEN-1 AND CANCER:

Weblink to the Association for Multiple Endocrine Neoplasia Disorders (AMEND)AMEND
The Association for Multiple Endocrine Neoplasia Disorders (AMEND) is a patient group set up in the United Kingdom in 2002 to support and inform anyone affected by or interested in multiple endocrine neoplasia disorders and their associated endocrine tumors.


Weblink to You and Your Hormones Patient InformationYou and Your Hormones
Multiple Endocrine Neoplasia Type-1 patient resource from the Society of Endocrinology, UK. Includes links to other endocrine conditions.


Weblink to Cancer.Net MEN1 PagesCancer.Net
Direct link to the Multiple Endocrine Neoplasia Type-1 resource at Cancer.Net. Very useful collection of resources and detailed information for patients with MEN-1 and their families


Weblink to Genetic and Rare Diseases Center (GARD)Genetic and Rare Diseases Center (GARD)
Supported by the NIH, this website has great resources for a huge range of genetic and rare diseases. The above link is to their MEN-1 resource. A link to the main GARD site is provided below as well.


Weblink to Genetics Home ReferenceGenetics Home Reference
Extensive resource about rare and genetic and genetic diseases. The above link leads to their excellent MEN pages. A link to the main site is provided below as well.


INFORMATION ABOUT GENETICS AND GENETIC TESTING:

Weblink to Genetics Home Reference Genetics Home Reference
Consumer-friendly information about the effects of genetic variations on human health. Federally-supported resources, include reviews of more than 800 genetic diseases and more than 1000 genes.


Weblink to Learning Resources from the NHGRILearning Resources from the NHGRI
Lots of very good resources from the NHGRI, including major sections about The Human Genome Project, Facts Sheets, and educational resources for teachers and students.


Weblink to National Society of Genetic CounselorsFind a Genetic Counselor
The National Society of Genetic Counselors have a searchable database of genetic counselors. Their website also includes some education materials for patients and healthcare professionals.


Weblink to NHGRI Talking GlossaryNHGRI Talking Glossary
Talking glossary of genetic terms developed by the National Human Genome Research Institute. A huge range of definitions is provided by researchers from around the world.


Weblink to Help Me Understand GeneticsHelp Me Understand Genetics
Help Me Understand Genetics is a handbook from the National Institutes of Health that contain useful information about genetics in clear language and provides links to even more online resources. The entire handbook can also be downloaded as a pdf.


Weblink to the Genetic and Rare Diseases Information CenterGenetic and Rare Diseases Information Center (GARD)
A joint project from The Office of Rare Diseases Research (ORDR) and the National Human Genome Research Institute (NHGRI) that provides searchable information about genetic conditions and rare diseases. It also includes a list of FDA-Approved drugs and other medical products for treating rare disease.


Weblink to NORDNational Organization for Rare Disorders - Resources for Parents/Families
The National Organization for Rare Disorders (NORD) is a volunteer organization dedicated to empowering the rare disease community. Again, they have some very nice web resources.


Weblink to ELSIEthical, Legal and Social Implications Research Program
The ELSI Research Program supports examinations and investigations of the ethical, legal and social implications of genetics research.


Weblink to GINAGenetic Information Nondiscrimination Act of 2008
The Genetic Information Nondiscrimination Act of 2008, also referred to as GINA, is a new federal law that protects Americans from being treated unfairly because of differences in their DNA that may affect their health.


Weblink to Learn.GeneticsLearn.Genetics, University of Utah
Excellent resources, especially for those involved in education. Includes a catalog of animations, videos, interactive features, and virtual labs.


Weblink to the Dolan DNA Learning CenterDolan DNA Leaning Center
The Dolan DNA Learning Center (DNALC) provides genetics learning resources for teachers and students - includes large repository of animations, photos, and text articles.


INFORMATION FOR RESEARCHERS:

Weblink to the ClinVar ACMG recommendations pageClinVar: ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing
Clinvar's dedicated ACMG page - a useful jumping-off point to the Genetic Testing Registry, OMIM, MedGen, and local ClinVar pages for each gene.


Weblink to MEN2 pageGeneReviews
Giusti, Marini & Brandi. GeneReviews: Multiple Endocrine Neoplasia Type 1 (updated February, 2015), includes a wide range of research resources.


About

What is the purpose of this information?
Our aim is to provide information about why we do genetic testing. We try to answer some common questions and offer guidance on some personal and practical issues. This information is for anybody with questions about genetic testing for any of the diseases and drugs listed in this site.

Are there geographical differences in testing, service or treatment?
Different centers have different policies in terms of how tests are administered and results shared. However, the results discussed in this document should be relevant to most individuals tested for risk of developing genetic disease.

How is this paid for?
If you received this test as part of the eMERGE research study, neither you nor your insurance company will have to pay anything toward this test

When was this content last updated?
April 10, 2017.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.
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