What Are The Multiple Endocrine Neoplasia Syndromes?

Multiple endocrine neoplasia syndromes are rare inherited diseases characterized by enlargement and overactivity of many endocrine glands at a time. These diseases are caused by mutations in the genes that are passed in families from generation to generation. The enlarged endocrine gland may have benign or malignant tumors. They can develop either in infant age or in old age. Their symptoms depend on the glands involved in the disease. A genetic screening test can diagnose the problems related to the disease and can be treated accordingly. However, they are incurable.

Multiple endocrine neoplasia syndrome or MEN refers to a group of inherited disorders that leads to the development of tumors in more than one tumor in endocrine glands at a time. It can involve major endocrine glands like pituitary, thyroid, parathyroid, adrenal glands and pancreas. The tumors developed can be benign or malignant. Benign tumors are slow-growing tumors that are located in a single part of the body and do not spread to other parts. It is also not a life-threatening condition. Malignant tumors are rapidly growing tumors that spread to other parts. If malignant tumors are not managed properly, it can be fatal. ⁽¹⁾

MEN syndrome is a genetic disorder that passes on in families from one generation to others. 50 % of children born in families with a history of MEN syndrome will develop such a disorder.

There are three types of MEN syndrome-

• MEN 1
• MEN 2A
• MEN 2B

The people who have MEN1 syndrome develop tumors in the pituitary gland, parathyroid gland, and pancreas. These tumors are benign in nature and they never turn into malignant forms. These tumors are formed due to overgrowth and overactivity of these glands. This type usually develops in childhood or adulthood. ⁽²⁾

Symptoms:

• Headaches and changes in the vision
• Problems related to sexual function and fertility
• Abdominal ailments such as vomiting, diarrhea, ulcers, etc.
• Overproduction of breast milk
• Excess growth of bones

MEN 2A affects the thyroid gland, adrenal gland and parathyroid gland resulting in the formation of tumors. Symptoms appear due to overactivity of tumors growing in these endocrine glands. This type usually starts at the age of 30 years. It results in the development of medullary thyroid cancer in almost 95% of the cases. In 40-50% of cases, certain tumors in adrenal glands (pheochromocytoma) may develop leading to an increase in blood pressure. ⁽³⁾

Symptoms:

• Increased pressure in the neck due to thyroid tumors
• Increased blood pressure, rapid heart rate and profuse perspiration due to adrenal tumors
• Increased thirst and frequent urination occur due to an increase in the calcium levels resulted from parathyroid tumors
• Neuromas near the lips and tongue
• Curved spine
• Thickened lips and eyelids
• Limbs are long with looseness in the joints
• Abnormalities in feet and thigh
• Curved spine
• Enlarged and irritated large intestine.

MEN 2B influences the activity of thyroid gland and adrenal gland. It also results in the development of tumors in these glands. It is a rare type of MEN. It may lead to abnormal features such as abnormal skeleton, abnormal height, and skinny structure, collectively named as marfanoid features. It may cause cancerous growth in the thyroid gland. It may appear in childhood before the age of 10 years. ⁽⁴⁾

Symptoms:

• Neuromas may appear in the mouth and digestive system.
• Abnormalities in the bony structure
• Problems related to digestion
• An unusual increase in the height
• Skinny structure

Multiple endocrine neoplasia syndromes is a rare inherited disease in which tumor is developed in the endocrine organs. It involves major endocrine glands like pituitary gland, parathyroid, thyroid, adrenal glands and pancreas. These tumors can be benign or malignant according to the nature of the tumor spreading to other parts of the body.

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