Hereditary paraganglioma-pheochromocytoma syndrome
February 1, 2023
Hereditary paraganglioma-pheochromocytoma syndrome (PPGL) is a genetic condition characterized by the development of tumors in certain parts of the body, such as the adrenal glands and the sympathetic ganglia (small clusters of nerve cells). These tumors, called paragangliomas or pheochromocytomas, produce and release excessive amounts of certain hormones, such as adrenaline, that can cause symptoms such as high blood pressure, rapid heartbeat, and sweating. PPGL is caused by mutations in genes involved in the regulation of cell growth and division. The diagnosis of PPGL is usually made through a combination of genetic testing, medical history, and physical exam, as well as imaging and hormone tests. Treatment may include medication to control symptoms, surgery to remove the tumors, and management of associated complications. Early diagnosis and management are important to prevent or minimize the effects of PPGL.
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