Multiple Endocrine Neoplasia

Introduction to Multiple Endocrine Neoplasia, or MEN

Multiple Endocrine Neoplasia, or MEN, is a rare, genetic disorder that affects the body’s endocrine system. The endocrine system is made up of glands that produce hormones which regulate bodily functions such as digestion, metabolism, growth, and sexual function. In individuals with MEN, the abnormal growth of cells in these glands can lead to the overproduction of hormones and related symptoms.

Types of Multiple Endocrine Neoplasia

There are three types of MEN, each impacting the endocrine system differently:

  • Type 1 - also known as MEN1, this type affects the parathyroid, pancreas, and pituitary glands.
  • Type 2A - also known as MEN2A, this type affects the thyroid, parathyroid, and adrenal glands.
  • Type 2B - also known as MEN2B, this type affects the same glands as MEN2A, but also causes tumors to grow inside the eyes, facial deformities, and breathing problems.

Causes of Multiple Endocrine Neoplasia

MEN is caused by a mutation in the MEN1, RET or HRPT2 gene. These genetic mutations are inherited, meaning they have likely been passed down from one or both parents, making the condition more common in certain families. However, not everybody with the gene mutation will develop MEN, which indicates that other yet unknown factors could be at play when it comes to manifesting symptoms.

Symptoms of Multiple Endocrine Neoplasia

The symptoms of MEN vary depending on type, but can include the following:

  • High blood calcium levels
  • Weak or brittle bones
  • Lack of energy
  • Excessive thirst and urination
  • Unexplained weight gain or loss
  • Frequent infections
  • Delayed physical and sexual development
  • Tumors in the abdomen, chest, or lymph nodes
  • Facial flushing or redness of the skin

Complications of Multiple Endocrine Neoplasia

If left untreated, MEN can cause additional complications such as:

  • Heart disease
  • Diabetes
  • Kidney failure
  • Cataracts
  • Hypercalcemia
  • Gangrene

Diagnosis of Multiple Endocrine Neoplasia

MEN is usually diagnosed by a combination of medical history, a physical exam, a series of laboratory tests, and imaging scans. One of the most common tests is the glucose tolerance test which looks for changes in blood sugar.

Treatment of Multiple Endocrine Neoplasia

Treatment options for MEN depend on the type and severity but may include surgery, radiation therapy, and medications. In some cases, lifestyle changes such as a healthful diet, regular exercise, adequate sleep, stress relief, and quitting smoking can also help to reduce symptoms.