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Genetic and Rare Diseases Information Center (GARD)

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Pheochromocytoma


Other Names for this Disease

  • Chromaffin cell tumor
  • Chromaffin paraganglioma
  • Chromaffin tumor
  • Chromaffinoma
  • Medullary paraganglioma
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

I have been diagnosed with pheochromocytoma but believe that there is more to this than has been tested thus far. After reading numerous literature on everything I could find, I realized that something genetic and family based was taking place. Can you help me?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What are pheochromocytomas?

Pheochromocytomas are rare tumors of the adrenal glands, which are located right above the kidneys. Although they are usually not cancerous (benign), pheochromocytomas often cause the adrenal glands to make too many stress hormones called epinephrines and norepinephrines. This can lead to high blood pressure and cause symptoms such as severe headaches, irritability, sweating, rapid heart rate, nausea, vomiting, weight loss, weakness, chest pain, and a feeling of anxiety. Rarely, this kind of tumor occurs outside the adrenal gland, usually somewhere in the abdomen, and are called extra-adrenal pheochromocytomas or paragangliomas.[1][2][3][4] Pheochromocytomas can occur in certain familial genetic syndromes.[4]
Last updated: 4/27/2011

Can pheochromocytomas be part of a genetic syndrome?

Pheochromocytomas may occur in certain familial genetic syndromes, including multiple endocrine neoplasia (MEN) type 2, neurofibromatosis type 1 (NF1), von Hippel-Lindau (VHL) disease, and hereditary paraganglioma-pheochromocytoma syndromes.[4]

Multiple endocrine neoplasia 2
(MEN2) is an inherited condition where one or more of the endocrine glands are overactive or form a tumor. The endocrine glands most commonly involved include: the adrenal glands (half of the time), parathyroid (20% of the time), thyroid (almost all of the time). Tumors usually seen in this condition are pheochromocytomas, medullary carcinoma of the thyroid, parathyroid adenoma, and parathyroid hyperplasia.MEN2 is inherited in an autosomal dominant fashion and is caused by mutations in a gene called RET.[5]

Von Hippel-Lindau syndrome (VHL)
is a rare, genetic disease that causes tumors and cysts to grow in the body. The tumors can be either cancerous or benign. They can grow in the brain and spinal cord, kidneys, pancreas and, in men, their genital tract. Symptoms of VHL vary and depend on the size and location of the tumors. They may include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems and high blood pressure.[6] VHL is inherited in an autosomal dominant fashion and is caused by mutations in the VHL gene.[7]

Neurofibromatosis type 1 (NF1) is a genetic disorder of the nervous system that causes tumors to grow on nerves. NF1 causes pigmented spots on the skin (cafe au lait spots) and benign tumors that are usually located just under the skin (neurofibromas). Tumors can also occur in the brain and other parts of the body. NF1 is inherited in an autosomal dominant fashion and is caused by mutation in the NF1 gene.[8]

Hereditary paraganglioma-pheochromocytoma syndromes are characterized by paragangliomas (or pheochromocytomas that are located outside of the adrenal glands) and pheochromocytomas. The paragangliomas can be located in the head, neck, trunk, abdomen, and pelvis. Symptoms generally include high blood pressure, severe headaches, excessive sweating, rapid heartbeat, and anxiety. The risk of cancer is greater for paragangliomas located in the trunk, abdomen, and pelvis than for pheochromocytomas or head and neck paragangliomas. Hereditary paraganglioma-pheochromocytoma syndromes are inherited in an autosomal dominant fashion and are caused by mutations in the SDHB, SDHD, SDHC, SDHAF2 genes.[9]
Last updated: 3/18/2011

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 6/5/2014

How can I find an endocrinologist in my community?

The American Association of Clinical Endocrinologists has a tool on their Web site to help patients locate an endocrinologist in their community. You can click on the link below to view this Web page.
https://www.aace.com/resources/find-an-endocrinologist
Last updated: 6/6/2011

References
Other Names for this Disease
  • Chromaffin cell tumor
  • Chromaffin paraganglioma
  • Chromaffin tumor
  • Chromaffinoma
  • Medullary paraganglioma
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.