Multiple Endocrine Neoplasia 2 (MEN 2) – Symptoms and Causes

Overview

Multiple Endocrine Neoplasia 2 (MEN 2) is a rare genetic condition that leads to tumor growth in several glands and tissues.

These tumors can appear in the thyroid, parathyroid glands, adrenal glands, and parts of the digestive system. People with MEN 2 have a changed gene that can be found through genetic testing.

This condition runs in families. When a parent has the changed gene, each of their children has a 50% chance of getting it too.

MEN 2 comes in two main forms:

MEN 2A (Classical MEN 2A or Sipple syndrome)

• Causes medullary thyroid cancer
• Creates non-cancerous tumors in the parathyroid glands
• Develops non-cancerous tumors in the adrenal glands

MEN 2B

• Much less common than MEN 2A
• Leads to medullary thyroid cancer
• Forms non-cancerous adrenal gland tumors
• Creates non-cancerous tumors on the lips, tongue, and in the digestive tract
• Does not affect the parathyroid glands

Signs and Symptoms

People with MEN 2 may show different symptoms depending on the tumor type.

Those with MEN 2B often have a distinctive look – they are typically tall and slim with long limbs and may have bumps on their tongue, lips, and eyes.

Symptoms can vary based on the specific tumor:

• Medullary thyroid cancer symptoms:
  • Neck or throat lumps
  • Breathing or swallowing difficulties
  • Voice changes (hoarseness)
  • Diarrhea
• Parathyroid hyperplasia symptoms:
  • Pain in muscles and joints
  • Constipation
  • Feeling tired
  • Memory issues
  • Stones in the kidneys
• Adrenal tumor symptoms:
  • High blood pressure
  • Fast heartbeat
  • Feelings of anxiety
  • Headaches

These symptoms can happen when tumors press against nearby tissues or when extra hormones are released in the body. Some people with medullary thyroid cancer may not have any symptoms at all.

When to Contact a Doctor

If you notice any of these symptoms, reach out to your healthcare provider right away. Early detection can lead to better treatment outcomes.

Causes

MEN 2 is a genetic condition that can be passed down through families. When someone has the altered gene for MEN 2, they have a 50% chance of passing it to each of their children.

Some people with MEN 2 don’t have any family history of the condition. They may be the first in their family to develop it due to a new genetic change.

People diagnosed with medullary thyroid cancer often undergo testing for MEN 2 to determine if they have this inherited disorder.

Complications

MEN 2 can lead to several health problems. When the parathyroid glands produce too much calcium in the blood (primary hyperparathyroidism), patients may develop:

• Osteoporosis (weakened bones)
• Kidney stones
• Frequent urination

Medullary thyroid cancer typically appears as a lump in the thyroid or neck area. Large tumors might cause difficulty swallowing. If the cancer spreads beyond the neck, additional symptoms may occur.

Another condition associated with MEN 2 is pheochromocytoma. This involves non-cancerous tumors that grow on the adrenal glands, which sit on top of the kidneys. These tumors can release hormones that cause:

• High blood pressure
• Excessive sweating
• Other related symptoms

Prevention

Genetic testing helps identify if someone has the altered gene that causes MEN 2. Children, parents, and siblings of affected individuals might carry this gene change, even without symptoms.

If a family member receives a MEN 2 diagnosis, healthcare providers typically recommend genetic testing for all family members. Testing can detect the altered gene in family members, even if they show no symptoms.

For example, removing the thyroid gland early in life can effectively manage the condition.

When genetic testing shows no gene changes in family members, additional screening tests are usually unnecessary. However, it’s important to note that genetic testing cannot detect all MEN 2 gene changes.

In cases where MEN 2 is suspected but not confirmed through testing, individuals and their family members should undergo regular blood tests, periodic imaging scans, and ongoing medical monitoring.