Pheochromocytoma primary prevention: Difference between revisions
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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. | |||
* 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.<sup>[[Pheochromocytoma screening#cite note-pmid26451910-1|[1]]]</sup> | |||
* 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:<sup>[[Pheochromocytoma screening#cite note-pmid24893135-2|[2]]]</sup> | |||
** 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) | |||
==References== | ==References== |
Revision as of 18:47, 10 July 2017
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Overview
Primary Prevention
- 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]
- 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)