Juliet Cohen

Detailed Information on Multiple Endocrine Neoplasia

Multiple endocrine neoplasia syndromes can appear in infants or in people as old as age 70. Type 1 and type 2 are distinguished by the genes involved, the types of hormones made, and the characteristic signs and symptoms.

Multiple endocrine neoplasia (MEN) syndromes influence the thyroid and other endocrine glands that produce hormones in the body. Hormones are chemical messengers that travel through the bloodstream and regulate the role of cells and tissues throughout the body. Multiple endocrine neoplasia involves tumors in at least two endocrine glands; tumors can also develop in other organs and tissues. These growths can be noncancerous (benign) or cancerous (malignant). There are three forms of MEN: MEN1 (Wermer's syndrome), MEN2A (Sipple syndrome), and MEN2B (previously known as MEN3).

 Many different types of tumors are related with multiple endocrine neoplasias. Type 1 frequently involves tumors of the parathyroid gland, pituitary gland, and pancreas. Tumors in these glands lead to the overproduction of hormones. MEN I is caused by a defect in a gene called RET. Risk factors for MEN I include a family history of this disorder, a previous pituitary tumor, and a history of Zollinger-Ellison syndrome.

The most common symptom of multiple endocrine neoplasia type 1 is overactivity of the parathyroid gland (hyperparathyroidism). Hyperparathyroidism dislocates the normal balance of calcium in the blood, which can lead to kidney stones, thinning of bones, nausea and vomiting, high blood pressure (hypertension), weakness, and fatigue. The most common sign of multiple endocrine neoplasia type 2 is a form of thyroid cancer called medullary thyroid carcinoma. Some people with this disorder also develop a pheochromocytoma, which is a tumor of the adrenal glands that can cause dangerously high blood pressure.

Multiple endocrine neoplasia type 2 is separated into three subtypes: type 2A, type 2B, and familial medullary thyroid carcinoma (FMTC). These subtypes discord in their characteristic signs and symptoms and risk of exact tumors; for example, hyperparathyroidism occurs only in type 2A. No comprehensive treatment is available for genetic conditions such as MEN. MEN 2A is treated with surgery. Diazoxide can be used to inhibit release of insulin. Hormone replacement therapy is given when glands are removed or do not produce enough hormones. High dose proton pump inhibitors are required for gastrin secreting tumours.

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