Pheochromocytoma screening: Difference between revisions
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==Overview== | ==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. | '''''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== | ==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. | * 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> | * 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> | ||
* For high risk children, screening for pheochromocytoma should begin by age 11 years and begin screening by age 16 years for modeate risk patients. 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. If positive, adrenal imaging (CT) or (MRI) should be performed. | * For high risk children, screening for pheochromocytoma should begin by age 11 years and begin screening by age 16 years for modeate risk patients. 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. If positive, adrenal imaging (CT) or (MRI) should be performed. | ||
* '''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> | * '''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> | ||
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[[Category:Endocrinology]] | [[Category:Endocrinology]] | ||
Revision as of 14:03, 21 July 2017
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Pheochromocytoma screening On the Web |
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Risk calculators and risk factors for Pheochromocytoma screening |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohammed Abdelwahed M.D[2]
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]
- For high risk children, screening for pheochromocytoma should begin by age 11 years and begin screening by age 16 years for modeate risk patients. 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. If positive, adrenal imaging (CT) or (MRI) should be performed.
- 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
- First-degree relatives of a patient with proven germline RET mutation
- Parents whose young children have MEN type2
- Patients with cutaneous lichen amyloidosis
- Families whose infants or young children have Hirschsprung disease (HD)
- Patients with known RET mutations perform a prophylactic thyroidectomy. Children with the highest risk mutation should have thyroidectomy within the first years of life. Children with moderate risk mutations at age five years.
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.