Rare Endocrinology News

Disease Profile

Pheochromocytoma

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Childhood

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ICD-10

C74.1 D35.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Adrenal Gland Chromaffin Paraganglioma; Adrenal Gland Chromaffinoma; Adrenal Gland Paraganglioma;

Categories

Blood Diseases; Congenital and Genetic Diseases; Endocrine Diseases;

Summary

Pheochromocytomas are tumors of the adrenal glands. These glands are located right above the kidneys. Pheochromocytomas 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 anxiety. Rarely, this kind of tumor occurs outside the adrenal gland, usually somewhere in the abdomen. These are called extra-adrenal pheochromocytomas or paragangliomas. The cause of most pheochromocytomas is unknown. In some cases, there is a genetic cause. This type of tumor can occur in certain familial genetic syndromes, including multiple endocrine neoplasia, type 2 (MEN2), neurofibromatosis type 1, Von Hippel-Lindau disease, hereditary paraganglioma-pheochromocytoma syndrome, Carney triad, and Carney-Stratakis dyad. There are also several genes that have been associated with pheochromocytoma when it does not occur as part of a syndrome.[1][2]

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Treatment

    The recommended treatment of a pheochromocytoma is removal by surgery, even in cases where there are pheochromocytomas in both adrenal glands.[3] Prior to surgery, it is important to take medications to control and stabilize blood pressure. Following surgery, affected individuals should visit their physicians regularly to monitor blood pressure and blood levels of metanephrine.[1][4] Long-term treatment with medication should only be considered if, for some reason, the pheochromocytoma cannot be removed by surgery.[1]

    Management Guidelines

    • The North American Neuroendocrine Tumor Society has published several consensus guidelines relating to the medical treatment and management of neuroendocrine tumors. Guidelines are developed pursuant to National Institute of Health (NIH) standards and serve as important references for practicing physicians.

      FDA-Approved Treatments

      The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

      • Iobenguane I 123(Brand name: Adreview™) Manufactured by GE Healthcare, Inc
        FDA-approved indication: To be used in the detection of primary or metastatic pheochromocytomas or neuroblastomas as an adjunct to other diagnostic tests
        National Library of Medicine Drug Information Portal
      • Iobenguane I 131(Brand name: Azedra) Manufactured by Progenics Pharmaceuticals, Inc.
        FDA-approved indication: July 2018, iobenguane I 131 (Azedra) was approved for the treatment of adult and pediatric patients 12 years and older with iobenguane scan positive, unresectable, locally advanced or metastatic pheochromocytoma or paraganglioma who require systemic anticancer therapy.
        National Library of Medicine Drug Information Portal

      Organizations

      Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

      Organizations Supporting this Disease

        Organizations Providing General Support

          Learn more

          These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

          Where to Start

            In-Depth Information

            • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
            • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
            • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
            • PubMed is a searchable database of medical literature and lists journal articles that discuss Pheochromocytoma. Click on the link to view a sample search on this topic.

              References

              1. Sweeney AT. Pheochromocytoma. eMedicine. June 2014; https://emedicine.medscape.com/article/124059-overview. Accessed 8/24/2014.
              2. Salman Kirmani, MBBS and William F Young, MD, MSc. Hereditary Paraganglioma-Pheochromocytoma Syndromes. GeneReviews. November 2014; https://www.ncbi.nlm.nih.gov/books/NBK1548/.
              3. Gumbs AA, Gagner M. Laparoscopic adrenalectomy. Best Practice & Research Clinical Endocrinology & Metabolism. 2006; 20(3):483-499. https://www.ncbi.nlm.nih.gov/pubmed/16980207. Accessed 8/24/2014.
              4. National Comprehensive Cancer Network. Neuroendocrine Tumors. NCCN Clinical Practice Guidelines in Oncology. 2014; https://www.nccn.org/professionals/physician_gls/pdf/neuroendocrine.pdf. Accessed 11/22/2014.

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