Multiple endocrine neoplasia type 1 (MEN 1)

Diagnosis

Your doctor will conduct a physical examination, go over your medical history, and inquire about your family history to determine if you have multiple endocrine neoplasia, type 1 (MEN 1). You might undergo imaging tests and a blood test, such as the ones listed below:

• Magnetic Resonance Imaging (MRI)
• Computerized Tomography (CT) scan
• Positron Emission Tomography (PET) scan
• Nuclear medicine scans
• Endoscopic ultrasound of the pancreas and other scans

MEN 1-causing genetic mutations can be identified by genetic testing. A person who carries a mutation runs the chance of passing it on to their offspring, who may then develop MEN 1. Even if they have not yet shown symptoms, parents and siblings are still susceptible to the mutation.

There is no need for additional screening tests if family members do not exhibit any associated genetic alterations. Genetic testing does not, however, detect all MEN 1 mutations. Even if genetic testing does not confirm the presence of MEN 1, individuals who are strongly suspected of having the condition, as well as their family members, still require regular and thorough monitoring through appropriate blood and imaging tests.

Treatment

The parathyroids, pancreas, and pituitary gland are all susceptible to tumor growth in MEN 1. The diseases that these tumors can develop to can all be treated. These ailments and their remedies could consist of:

• Pituitary tumors. Surgery or medication therapy are two possible treatments for certain tumor types.
• Hyperparathyroidism. The typical treatment for excessive parathyroid hormone is surgery to remove the majority of the parathyroid glands.
• Neuroendocrine tumors. These are typically seen in the pancreas or small intestine (duodenum). The nature and stage of the tumor determine the course of treatment.
• Hypoglycemic syndrome. This disorder develops when tumors create an excessive amount of insulin (insulinomas), leading to dangerously low glucose levels. Typically, doctors advise surgery and sometimes partial pancreatic removal.
• Zollinger-Ellison syndrome (ZES). Gastrinomas, tumors that create too much stomach acid as a result of ZES, can cause ulcers and diarrhea. Medication or surgery may be recommended by doctors.
• Other pancreatic neuroendocrine tumors. Other hormones that these tumors occasionally produce have a variety of negative health effects. These tumors can be treated with medicine, surgery, or an ablation treatment. Your doctor may remove any aberrant tissue via an ablation surgery.
• Metastatic neuroendocrine tumors. Surgery can be used to treat diseases that have spread to the liver or lymph nodes. Options for surgery include liver surgery, cryoablation, radiofrequency ablation, and chemoembolization.

Through the use of a needle and high-frequency energy, radiofrequency ablation kills adjacent cells by heating up the tissue around it. In cryoablation, tumors are frozen. Additionally, chemoembolization entails infusing potent chemotherapy medications right into the liver. When surgery is not a possibility, medical professionals could turn to hormone-based therapies or other types of chemotherapy.

• Adrenal tumors. The majority of these tumors are treatable only by observation. However, doctors advise removal of the tumors, typically through minimally invasive surgery, if they generate hormones or if they are large and suspected to be malignant.
• Carcinoid tumors. People with MEN 1 can develop carcinoid tumors in their digestive system, thymus, or lungs. When these tumors have not yet metastasized, surgeons remove them. For advanced cases, doctors may utilize hormone-based therapy, radiation therapy, or chemotherapy.