Endocrine: Genetic Syndromes

Familial paraganglioma-pheochromocytoma syndrome is a hereditary condition indicated by the presence of tumors called paragangliomas and/or pheochromocytomas. Paraganglioma tumors arise from bundles of neuroendocrine cells that exist in different locations of the body — from the pelvis, to the spine, to the base of the skull.

A pheochromocytoma is a paraganglioma that arises in adrenal gland tissue, which results in the overproduction of adrenal hormones (epinephrine and norepinephrine). People with familial paraganglioma-pheochromocytoma syndrome might develop these two kinds of tumors early in life, however they can also be diagnosed at a later age. Also, in this hereditary condition these tumors can potentially be recurrent or malignant.

Genetic counseling is part of treatment for all patients diagnosed with pheochromocytoma and paraganglioma tumors because these conditions most commonly run in families. About one-third of pheochromocytoma cases are inherited or genetic. Genetic screening can provide critical information about the patient's chance of recovery. Comprehensive screening for family members of a person with this diagnosis is highly recommended.