Pheochromocytoma screening: Difference between revisions
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==Screening== | ==Screening== | ||
''''' | * According to the Endocrine Society, screening for '''''familial pheochromocytoma''''' is associated with many syndromes. [[Multiple endocrine neoplasia type 2|Multiple endocrien neoplasia]] (MEN2) is one of them. Biochemical screening for family members of MEN2 patients is mandatory. | ||
* Biochemical screening for pheochromocytoma in pediatric patients with [[Von Hippel-Lindau tumor suppressor|VHL]] starting at 5 years of age with lifelong biochemical surveillance every year and the use of anatomic imaging when [[norepinephrine]] levels are elevated more than two times upper normal limits.<ref name="pmid26451910">{{cite journal| author=Aufforth RD, Ramakant P, Sadowski SM, Mehta A, Trebska-McGowan K, Nilubol N et al.| title=Pheochromocytoma Screening Initiation and Frequency in von Hippel-Lindau Syndrome. | journal=J Clin Endocrinol Metab | year= 2015 | volume= 100 | issue= 12 | pages= 4498-504 | pmid=26451910 | doi=10.1210/jc.2015-3045 | pmc=4667160 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26451910 }}</ref> | |||
* Plasma fractionated metanephrines as the best test in this case. Normal values are enough to stop any further tests but if elevated results, 24-hour urinary fractionated metanephrines should be done. | |||
* '''Genetic testing''' should be performed in:<ref name="pmid24893135">{{cite journal| author=Lenders JW, Duh QY, Eisenhofer G, Gimenez-Roqueplo AP, Grebe SK, Murad MH et al.| title=Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. | journal=J Clin Endocrinol Metab | year= 2014 | volume= 99 | issue= 6 | pages= 1915-42 | pmid=24893135 | doi=10.1210/jc.2014-1498 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24893135 }}</ref> | |||
* Patients with a family history of pheochromocytoma, | * Patients with a family history of pheochromocytoma, | ||
* Bilateral or multifocal lesions. | * Bilateral or multifocal lesions. | ||
Revision as of 17:17, 7 July 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
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Overview
Familial pheochromocytoma associated with multiple endocrien neoplasia, VHL and neurofibromatosis1 should be screened by plasma fractionated metanephrines levels as the best initial test. 24-hour urinary fractionated metanephrines should be done. and imaging should be considered if initial test is positive.
Genetic testing also should be performed in high risk patients.
Screening
- According to the Endocrine Society, screening for familial pheochromocytoma is associated with many syndromes. Multiple endocrien neoplasia (MEN2) is one of them. Biochemical screening for family members of MEN2 patients is mandatory.
- Biochemical screening for pheochromocytoma in pediatric patients with VHL starting at 5 years of age with lifelong biochemical surveillance every year and the use of anatomic imaging when norepinephrine levels are elevated more than two times upper normal limits.[1]
- Plasma fractionated metanephrines as the best test in this case. Normal values are enough to stop any further tests but if elevated results, 24-hour urinary fractionated metanephrines should be done.
- Genetic testing should be performed in:[2]
- Patients with a family history of pheochromocytoma,
- Bilateral or multifocal lesions.
- tumors or malignant or extra-adrenal pheochromocytoma,
- Young patients who are aged 50 years or under.
References
- ↑ Aufforth RD, Ramakant P, Sadowski SM, Mehta A, Trebska-McGowan K, Nilubol N; et al. (2015). "Pheochromocytoma Screening Initiation and Frequency in von Hippel-Lindau Syndrome". J Clin Endocrinol Metab. 100 (12): 4498–504. doi:10.1210/jc.2015-3045. PMC 4667160. PMID 26451910.
- ↑ Lenders JW, Duh QY, Eisenhofer G, Gimenez-Roqueplo AP, Grebe SK, Murad MH; et al. (2014). "Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline". J Clin Endocrinol Metab. 99 (6): 1915–42. doi:10.1210/jc.2014-1498. PMID 24893135.