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 associated with multiple endocrine neoplasias, VHL and neurofibromatosis1 should be screened by plasma fractionated metanephrines levels as the best initial test. 24-hour urinary fractionated metanephrines should be done. and imaging should be considered if the initial test is positive. Genetic testing also should be performed in high-risk patients.
Screening
- According to the Endocrine Society, screening for familial pheochromocytoma is associated with many syndromes. Multiple endocrine neoplasias (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]
- For high-risk children, screening for pheochromocytoma should begin by age 11 years and begin screening by age 16 years for moderate risk patients. 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. If positive, adrenal imaging (CT) or (MRI) should be performed.
- 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.