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Signs and symptoms

The signs and symtoms of multiple endocrine neoplasia depend on the type of disease and the endocrine glands that affected by the tumour growth, as the normal function of the gland may be altered by the tumour. In most cases, the affected endocrine gland produces more hormones than usual, leading to excessive levels and effect of the hormones.

Someone who has MEN-1 syndrome is often asymptomatic. The most common sign of multiple endocrine neoplasia type 1 is overactivity of the parathyroid glands (hyperparathyroidism). Hyperparathyroidism disrupts the normal balance of the calcium in the blood, which can lead to kidney stones, thinning of the bones, nausea and vomiting, high blood pressure (hypertension), weakness and fatigue. However, the first health problems people often noticed are due to dysfunction of the parathyroid gland. By the age of 40, most affected people will have abnormally high levels of calcium in their blood and this can lead to kidney stones, osteoporosis or muscle aches and pains. They may also notice symptoms caused by cancers in other organs. This may include an upset stomach, due to increased acid secretion, and low blood sugar levels. 


Multiple endocrine neoplasia type 2 is divided into three subtypes: type 2A, type 2B (formerly called type 3), and familial medullary thryoid carcinoma (FMTC). These subtypes differ in their characteristic signs and symptoms and risk of specific tumours; for example, hyperparathyriodism occurs only in the type 2A, and medullary thyroid carcinoma is the only feature of FMTC. The signs and symptoms of multiple endocrine neoplasia type 2 are relatively consistent within any one family.

The most common presentation of this syndrome is a lump at the front of the neck that could be a sign of medullary thyroid cancer. Some people may first notice a racing heart or palpitations, sweating and anxiety. These symptoms are related to the development of a phaeochromocytoma whcih is an endocrine gland tumour. Finally, some people may notice changes or growths on their tongue or lips.

Last Review Date: September 7, 2019