Multiple Endocrine Neoplasia Type 1 (MEN1)

How is MEN1 diagnosed by doctors?

You may be clinically diagnosed with MEN1 if you meet one of these three criteria:

• Two or more MEN1-related tumours (tumours in parathyroid glands, pituitary gland and pancreas, or other parts of the digestive tract)
• One MEN1-related tumour and a first-degree relative (a parent, sibling or child) who has been clinically diagnosed with MEN1
• A faulty MEN1 gene, even if you have no signs or symptoms of MEN1
  

Who should undergo genetic testing for MEN1?

You should consider genetic testing if you or your family members meet one or more of the following criteria:

• Clinical diagnosis of MEN1
• Familial hyperparathyroidism (FIHPT)
• Parathyroid tumours diagnosed before the age of 40
• Recurrent or multiglandular primary hyperparathyroidism at any age
• Gastrinomas or multifocal pancreas/digestive tract neuroendocrine tumours at any age
• Pancreas and digestive tract neuroendocrine tumours before the age of 40
• Bronchial or thymic tumours at any age
• Consideration of pregnancy with a known family history of MEN1
• A previously identified faulty MEN1 gene in the family

How can your genetic test result help you?

1. Personalised management
   Your genetic test result may confirm whether your personal and/or family history is due to a hereditary condition like MEN1, and clarify what your lifetime tumour/cancer risks may be.
   
   As MEN1 may present similarly to other conditions, undergoing genetic testing can help you confirm your diagnosis of MEN1, which can help to direct your medical management.
   
   Understanding if you have MEN1 provides you with options for managing your increased risk of tumours/cancer. For example, screening options (blood tests/imaging) may be recommended to you which can help to detect tumours/cancer at its earliest, most treatable and manageable stage.
   
   In some cases, you may choose to undergo surgery that can help to reduce your risk of developing tumours/cancer. For individuals planning a family, reproductive options may also be available.

2. Familial implications
   Your genetic test result can also help you understand if other family members are at risk of MEN1. They can subsequently consider their own testing (predictive testing) to clarify their carrier status to determine tumour and cancer risks.
   
   Family members who have inherited the same faulty MEN1 gene may be at increased risk of tumours and cancer and can benefit from management options such as screening (to detect tumours and cancer at an early and manageable stage) or surgery (to reduce their risk of cancer).
   
   Family members who did not inherit the faulty MEN1 gene can avoid unnecessary screening and worry. Their children will also not be at risk.