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| __NOTOC__ | | __NOTOC__ |
| {{Pheochromocytoma}} | | {{Pheochromocytoma}} |
| {{CMG}}; {{AE}} | | {{CMG}}; {{AE}} {{MAD}} |
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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'' 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 endocrien neoplasia]] (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 fractionated metanephrines 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'' mutation
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| * Parents whose young children have MEN type2
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| * Patients with cutaneous lichen amyloidosis
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| * Families whose infants or young children have Hirschsprung disease (HD)
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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 modeate risk patients. Patients should be screened yearly by measuring 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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| [[Category:Endocrinology]]
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