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| ==Overview== | | ==Overview== |
| Biochemical screening for family members of [[MEN2]] patients is mandatory.Genetic testing should be performed in first-degree relatives of a patient with proven germline ''[[RET proto-oncogene|RET]]'' mutation.
| | There are no established measures for the primary prevention of [[pheochromocytoma]]. |
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| ==Primary Prevention== | | ==Primary Prevention== |
| * According to the Endocrine Society, screening for '''''[[familial pheochromocytoma]]''''' is associated with many syndromes. [[Multiple endocrine neoplasia type 2|Multiple endocrine neoplasia]]<nowiki/>s (MEN2) is one of them. Biochemical screening for family members of MEN2 patients is mandatory.
| | There are no established measures for the primary prevention of [[pheochromocytoma]]. |
| * 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>
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| * 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 [[Metanephrine|fractionated metanephrine]]<nowiki/>s should be done.
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| === '''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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| * First-degree relatives of a patient with proven germline ''[[RET proto-oncogene|RET]]'' mutation
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| * Parents whose young children have [[Multiple endocrine neoplasia type 2|MEN type2]]
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| * Patients with cutaneous lichen amyloidosis
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| * Families whose infants or young children have [[Hirschsprung disease]]
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| * For high-risk children, screening for pheochromocytoma should begin by age 11 years and begin screening by age 16 years for moderate risk patients. Patients should be screened yearly by measuring [[Metanephrines|plasma fractionated metanephrines]]. If positive, adrenal imaging (CT) or (MRI) should be performed.
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| * 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.
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| == References ==
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| {{reflist|2}}
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