 | | | | | Thyroid Cancer: Multiple Endocrine Neoplasia (MEN) More info on this condition | |
| | | Symptoms Diagnosis and Complications | | | | | Symptoms Nearly everyone who inherits a susceptibility to MEN 2a will develop overactive parathyroid glands (hyperparathyroidism) by age 50, but the disorder can be detected before age 20. Hyperparathyroidism causes the release of too much parathyroid hormone, leading to hypercalcemia, or excess calcium in the blood. This condition can exist for many years before it is detected. Untreated hypercalcemia can cause excess calcium to collect in the urine, leading to kidney stones or kidney damage. Hyperparathyroidism may cause no symptoms for many years or it may lead to tiredness, weakness, muscle or bone pain, constipation, indigestion, kidney stones, or thinning of bones. Patients who inherit a susceptibility to MEN 2b, however, do not develop hyperparathyroidism. Diagnosis Although MEN 2 is inherited, most people do not realize they are at risk until someone in their family develops the disorder. Many people may carry the gene, but never discover they have it. Once the gene is discovered in a family, first-degree relatives should be screened. The condition appears in half of the children who have a parent with the disease. People with a family history of MEN 2 cannot pass the gene to their children unless they actually carry it themselves. Two types of tests are performed to confirm whether a patient is carrying the MEN 2 gene: genetic testing and screening for endocrine gland overactivity. Genetic testing involves drawing a blood sample from the patient and analyzing the DNA, or genetic material, in the blood. A positive genetic test result means that the patient is at risk of developing the malignancies associated with MEN 2. If a patient has inherited the MEN 2 gene, they should have regular blood tests to identify any endocrine gland overactivity. The blood tests measure the level of parathyroid hormone and calcium to detect hyperparathyroidism; epinephrine to detect adrenal gland overactivity, and calcitonin to detect thyroid overactivity. Complications People who inherit MEN 2 may develop tumors of the parathyroid or adrenal gland, most of which are benign (non-cancerous). These tumors are called adenomas. They release extra hormones, which may interfere with the body's normal functions.
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