Multiple Endocrine Neoplasia Type 1 (MEN 1)

Genetic Consultation and Testing

Genetic consultation is offered to patients and their families to review the pros and cons of genetic testing. Genetic consultation will address issues such as how and where the gene test is done, the probability of a positive test, how a positive test would influence current medical management, and how it would provide options for at-risk family members. A genetic consultation can also help to explain which other family members may be at risk and should consider further evaluation. Experts at Mayo recommend that clinical screening of family members at risk for multiple endocrine neoplasia type 1 (MEN 1) begin in childhood or adolescence.

Geneticists conduct tests to establish the presence of the MEN 1-related genetic mutation. If the geneticist does not find the related genetic change in a family member of a known (mutation positive) MEN 1 patient, then no further screening tests are needed. If no mutation is identifiable in an affected family member, this type of predictive testing cannot be done.

Physicians at Mayo Clinic encourage people who have the genetic mutation related to MEN 1 (or those at risk for MEN 1 who have not had genetic testing) to undergo periodic tests to detect tumors and other related medical problems. For many MEN 1 patients, abnormalities can be detected in the blood even before symptoms of disease appear. Pancreatic and duodenal endocrine tumors remain the number one cause of tumor-related death in MEN 1 patients. This means that early intervention for pancreatic tumors and some other MEN 1 related conditions may have a significant impact on the patient's long-term survival.