Pheochromocytoma screening: Difference between revisions
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Familial pheochromocytoma is associated with [[Multiple endocrine neoplasia|multiple endocrine neoplasias]], [[Von Hippel-Lindau tumor suppressor|VHL]] and [[Neurofibromatosis type I|neurofibromatosis1]] and should be [[Screening (medicine)|screened]] by [[plasma]] fractionated [[Metanephrine|metanephrines]] levels. The next step is to obtain 24-hour [[urinary]] fractionated [[metanephrine]] levels. Imaging should be considered if the initial tests are positive. [[Genetic]] testing also should be performed in high-risk patients. | Familial pheochromocytoma is associated with [[Multiple endocrine neoplasia|multiple endocrine neoplasias]], [[Von Hippel-Lindau tumor suppressor|VHL]] and [[Neurofibromatosis type I|neurofibromatosis1]] and should be [[Screening (medicine)|screened]] by [[plasma]] fractionated [[Metanephrine|metanephrines]] levels. The next step is to obtain 24-hour [[urinary]] fractionated [[metanephrine]] levels. Imaging should be considered if the initial tests are positive. [[Genetic]] testing also should be performed in high-risk patients. | ||
==Screening== | ==Screening== | ||
* According to the Endocrine Society, [[biochemical]] [[Screening (medicine)|screening]] for pheochromocytoma in [[pediatric]] patients with [[Von Hippel-Lindau tumor suppressor|VHL syndrome]] | * According to the Endocrine Society, [[biochemical]] [[Screening (medicine)|screening]] for pheochromocytoma in recommended among [[pediatric]] patients with: | ||
** [[Von Hippel-Lindau tumor suppressor|VHL syndrome]]- started at 5 years of age with [[biochemical]] surveillance every year for the rest of life. | |||
[[Anatomic]] imaging should be used 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 (medicine)|screening]] for pheochromocytoma should begin by 11 years of age. For moderate risk patients, [[Screening (medicine)|screening]] should be started by 16 years of age. [[Plasma]] fractionated [[metanephrine]] level is the best test in this case. Normal values are enough to stop any further tests but if elevated results, 24-hour [[urinary]] fractionated [[Metanephrine|metanephrines]] should be done. If positive, [[Adrenal gland|adrenal]] imaging ([[Computed tomography|CT]]) or ([[Magnetic resonance imaging|MRI]]) should be performed. | * For high-risk children, [[Screening (medicine)|screening]] for pheochromocytoma should begin by 11 years of age. For moderate risk patients, [[Screening (medicine)|screening]] should be started by 16 years of age. [[Plasma]] fractionated [[metanephrine]] level is the best test in this case. Normal values are enough to stop any further tests but if elevated results, 24-hour [[urinary]] fractionated [[Metanephrine|metanephrines]] should be done. If positive, [[Adrenal gland|adrenal]] imaging ([[Computed tomography|CT]]) or ([[Magnetic resonance imaging|MRI]]) should be performed. | ||
Revision as of 03:34, 26 July 2020
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Pheochromocytoma Microchapters |
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Pheochromocytoma screening On the Web |
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American Roentgen Ray Society Images of Pheochromocytoma screening |
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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 is associated with multiple endocrine neoplasias, VHL and neurofibromatosis1 and should be screened by plasma fractionated metanephrines levels. The next step is to obtain 24-hour urinary fractionated metanephrine levels. Imaging should be considered if the initial tests are positive. Genetic testing also should be performed in high-risk patients.
Screening
- According to the Endocrine Society, biochemical screening for pheochromocytoma in recommended among pediatric patients with:
- VHL syndrome- started at 5 years of age with biochemical surveillance every year for the rest of life.
Anatomic imaging should be used when norepinephrine levels are elevated more than two times upper normal limits.[1]
- For high-risk children, screening for pheochromocytoma should begin by 11 years of age. For moderate risk patients, screening should be started by 16 years of age. Plasma fractionated metanephrine level is 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.
Indications for genetic screening
- Genetic testing should be performed in:[2]
- Patients with a family history of pheochromocytoma
- Tumors or malignant or extra-adrenal pheochromocytoma
- Young patients who are aged 50 years or under
- Families whose infants or young children have Hirschsprung disease
- Bilateral or multifocal lesions
- First-degree relatives of a patient with proven germline RET mutation
- Patients with cutaneous lichen amyloidosis
- 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.
- Parents whose young children have MEN type2
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.