Pheochromocytoma screening: Difference between revisions
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=== Genetic screening === | === Genetic screening === | ||
* | * 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> | ||
** Patients with a [[family history]] of pheochromocytoma | ** Patients with a [[family history]] of pheochromocytoma | ||
**[[Tumors]] or [[malignant]] or extra-[[Adrenal gland|adrenal]] pheochromocytoma | **[[Tumors]] or [[malignant]] or extra-[[Adrenal gland|adrenal]] pheochromocytoma | ||
** Families whose infants or young children have [[Hirschsprung's disease|Hirschsprung disease]] | ** Families whose infants or young children have [[Hirschsprung's disease|Hirschsprung disease]] | ||
**[[First degree relative|First-degree relatives]] of a patient with proven [[Germline mutation|germline]] ''[[RET proto-oncogene|RET]]'' [[mutation]] | **[[First degree relative|First-degree relatives]] of a patient with proven [[Germline mutation|germline]] ''[[RET proto-oncogene|RET]]'' [[mutation]] | ||
** Patients with [[cutaneous]] lichen [[amyloidosis]] | ** Patients with [[cutaneous]] lichen [[amyloidosis]] | ||
** Patients with known ''[[RET proto-oncogene|RET]]'' mutations | ** Patients with known ''[[RET proto-oncogene|RET]]'' mutations. | ||
** Parents whose young children have [[Multiple endocrine neoplasia type 2|MEN | ** Parents whose young children have [[Multiple endocrine neoplasia type 2|MEN 2A/2B]] | ||
==References== | ==References== | ||
Latest revision as of 22:22, 28 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
Biochemical screening
- According to the Endocrine Society, biochemical screening for pheochromocytoma in recommended among patients with:
- VHL syndrome- started at 5 years of age with biochemical surveillance every year for the rest of life.
- Signs or symptoms suggesting catecholamine excess, especially if the symptoms are paroxysmal.
- Unexpected blood pressure changes to drugs, surgery, or anesthesia
- Unexplained blood pressure variability
- Incidentaloma, even if the patient is normotensive
- Blood pressure that is difficult to control
- History of previous treatment for pheochromocytoma or paraganglioma
- Hereditary risk of pheochromocytoma or paraganglioma in family members
- Syndromic features relating to a pheochromocytoma-related hereditary syndromes [1]
- Plasma fractionated metanephrine level is the best test. If elevated, 24-hour urinary fractionated metanephrines should be done.
Imaging screening
Anatomic imaging should be used when norepinephrine levels are elevated more than two times upper normal limits.[2]
- 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.
- If positive, adrenal imaging (CT) or (MRI) should be performed.
Genetic screening
- Genetic testing should be performed in:[1]
- Patients with a family history of pheochromocytoma
- Tumors or malignant or extra-adrenal pheochromocytoma
- Families whose infants or young children have Hirschsprung disease
- First-degree relatives of a patient with proven germline RET mutation
- Patients with cutaneous lichen amyloidosis
- Patients with known RET mutations.
- Parents whose young children have MEN 2A/2B
References
- ↑ 1.0 1.1 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.
- ↑ 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.