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]] should be 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>
===Biochemical screening===
* For high-risk children, [[Screening (medicine)|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 [[Metanephrine|metanephrines]] should be done. If positive, [[Adrenal gland|adrenal]] imaging ([[Computed tomography|CT]]) or ([[Magnetic resonance imaging|MRI]])  should be performed.
* According to the Endocrine Society, [[biochemical]] [[Screening (medicine)|screening]] for pheochromocytoma in recommended among 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.
** 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 <ref name="pmid24893135">{{cite journal| author=Lenders JW, Duh QY, Eisenhofer G, Gimenez-Roqueplo AP, Grebe SK, Murad MH | display-authors=etal| 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>
*[[Plasma]] fractionated [[metanephrine]] level is the best test. If elevated, 24-hour [[urinary]] fractionated [[Metanephrine|metanephrines]] should be done.


=== Indications for genetic screening ===
===Imaging 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>
[[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.
* If positive, [[Adrenal gland|adrenal]] imaging ([[Computed tomography|CT]]) or ([[Magnetic resonance imaging|MRI]]) should be performed.
 
=== 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
** Young patients who are aged 50 years or under
** Families whose infants or young children have [[Hirschsprung's disease|Hirschsprung disease]]
** Families whose infants or young children have [[Hirschsprung's disease|Hirschsprung disease]]
** Bilateral or multifocal lesions
**[[First degree relative|First-degree relatives]] of a patient with proven [[Germline mutation|germline]] ''[[RET proto-oncogene|RET]]'' [[mutation]]
** 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 perform a [[Prophylaxis|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.
** Patients with known ''[[RET proto-oncogene|RET]]'' mutations.
** Parents whose young children have [[Multiple endocrine neoplasia type 2|MEN type2]]
** 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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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

References

  1. ↑ 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.
  2. ↑ 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.
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