What Are Multiple Endocrine Neoplasia and von Hippel-Lindau Syndrome?
Multiple endocrine neoplasia is a group of disorders that causes the endocrine glands to grow tumors and release hormones. Von Hippel-Lindau syndrome is a genetic disorder.
Multiple endocrine neoplasia
Multiple endocrine neoplasia is a group of disorders that causes the endocrine glands to grow tumors and release hormones. Type 1 typically involves tumors in the parathyroid glands, pituitary glands and pancreas, often leading to hyperparathyroidism (overactive parathyroid glands). Type 2 usually involves thyroid cancer and occasionally adrenal gland tumors. Type 4 usually causes hyperparathyroidism and tumors in the pituitary gland, endocrine glands and other organs.
Multiple endocrine neoplasia is genetic and typically inherited but can also be caused by gene mutations. Common symptoms include:
- Bone pain
- Kidney stones
Treatment typically includes surgery to remove the tumors or medication that suppresses tumor growth. Northwestern Medicine recommends removing parathyroid tumors when there is bone loss, kidney stones or high calcium levels in the blood.
Since removal of pancreatic tumors usually involves removing the entire pancreas, your physician will decide whether removing the tumors is worth the risk of developing diabetes. Pituitary tumors are typically managed with medication if they produce the hormone prolactin, and removed if they produce growth hormones.
von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome (VHL) is a genetic disorder characterized by small tumors and cysts that form in many parts of the body, especially the kidneys, pancreas and genitals. These tumors may be benign or malignant, but can often cause other problems depending on where they are located in the body.
Hemangioblastomas, which are formed by blood vessels, can develop in the brain and spinal cord and cause weakness, headaches and light sensitivity. Patients with von Hippel-Lindau syndrome are also at risk for developing kidney cancer and pancreatic cancer.
Although VHL disease cannot be reversed, Northwestern Medicine routinely screens at-risk patients to detect retinal angiomas, hemangioblastomas and renal carcinomas. Physicians typically treat retinal angiomas with photocoagulation and cryotherapy, and surgically remove hemangioblastomas and renal tumors.