Multiple Endocrine Neoplasia Type 2 (MEN2): Diagnosis & Treatment

How do doctors diagnose multiple endocrine neoplasia type 2 (MEN2)?

How doctors diagnose MEN2 depends on whether your child has MEN2A or MEN2B.

MEN2A

Children are usually diagnosed because a parent or relative has MEN2A. Doctors can diagnose MEN2A in the following ways:

• Medical and family history
• Physical exam
• Genetic testing
• If your child or close relatives have at least 2 of the 3 following conditions: MTC, pheochromocytomas, parathyroid adenoma or hyperplasia (when an organ or tissue becomes enlarged)

MEN2B

• If your child has a combination of MTC and mucosal neuromas
• Physical exam for the following features: protruding lips, thin facial features, a thin body type and medullated corneal nerve fibers in the eye.

How is MEN2 treated?

There is no cure for MEN2, but there are ways to ease symptoms and lower the risk for the associated tumors. Early and consistent screening is extremely important because many symptoms of MEN2 are not noticeable until adulthood.

Treatment for MEN2:

• Tumor removal
• Medications to manage hormonal imbalances resulting from partial or complete removal of an endocrine gland
• For children with MEN2 who have a higher risk of developing MTC, a thyroidectomy (removal of the thyroid gland). Whether this is necessary and the timing of surgery depends on the specific mutation in the RET gene, blood tests for calcitonin and carcinoembryonic antigen (the two proteins associated with MTC) and thyroid ultrasound results. If you choose, your child can have a thyroidectomy before tumors start to develop. You can also choose to wait (with close monitoring by your child’s care team) for blood tests and a thyroid ultrasound to determine whether a tumor has developed. If the thyroid is removed, your child needs to take a thyroid hormone replacement pill for the rest of their lives. Once MTC spreads, it is difficult to cure.

Treatment for hyperparathyroidism:

• Removal of the affected parathyroid gland (gland located behind the thyroid in the neck). Hyperparathyroidism is associated with increased calcium in the blood and urine and an elevated (higher than usual) or normal parathyroid hormone level. To determine which parathyroid gland is enlarged, a neck ultrasound or scan may be done.

Treatment for pheochromocytomas:

• Annual blood and urine tests to monitor symptoms and elevated epinephrine and related hormone levels. Epinephrine (also called adrenaline) is a stress hormone made by the adrenal glands. Pheochromocytomas are adrenal tumors created from the cells that produce epinephrine. Doctors can detect these tumors based on symptoms and elevated epinephrine-related hormone levels in blood or urine. Annual blood and urine screening allows tumors to be diagnosed earlier and when they are smaller. This may allow only one part of the adrenal gland to be removed instead of all of it.
• Medication to control blood pressure before surgery and adrenal hormone replacement therapy after surgery.

What are the risks associated with thyroid or parathyroid surgery?

A risk associated with thyroid or parathyroid surgery are undiagnosed adrenal tumors. Before surgery, children with MEN2 should be screened for a pheochromocytoma. This can help avoid the risk of undiagnosed adrenal tumors that cause malignant hypertension (severe high blood pressure) during surgery. Medications can help control blood pressure before, during and after surgery.

What is the follow-up care for MEN2?

Children with MEN2 need follow-up care and screening for the remainder of their lives. They should also be screened every year for pheochromocytoma and hyperparathyroidism, even after removal of the thyroid gland.

If your child has a thyroidectomy for MCT, they will need physical exams and tests every 3-6 months. Follow-up exams can be done yearly if your child’s symptoms get better over an extended period.

What sets Mass General for Children (MGfC) apart in treating this condition?

MGfC has a very skilled team of pediatric endocrinologists and endocrine surgeons to help take care of children with MEN2 and its associated tumors. We provide multidisciplinary, family-centered and comprehensive care to our patients with MEN2.

How does this condition differ in children compared to adults?

Certain tumors, such as MTC, tend to develop earlier in life. Parathyroid tumors and pheochromocytomas tend to develop later in life.

Rev. 12/2021. Mass General for Children and Massachusetts General Hospital do not endorse any of the brands listed on this handout. This handout is intended to provide health information so that you can be better informed. It is not a substitute for medical advice and should not be used to treatment of any medical conditions.