Pheochromocytoma primary prevention

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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

Biochemical screening for family members of MEN2 patients is mandatory. Genetic testing should be performed in first-degree relatives of a patient with proven germline RET mutation.

Primary Prevention

• Familial pheochromocytoma is associated with many syndromes. Multiple endocrine neoplasias (MEN2) is one of them.
• 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.
• 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:

• 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
• For high-risk children, screening for pheochromocytoma should begin by age 11 years and begin screening by age 16 years for moderate risk patients. Patients should be screened yearly by measuring plasma fractionated metanephrines. If positive, adrenal imaging (CT) or (MRI) should be performed.
• 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.