Pheochromocytoma and Paraganglioma in Neurofibromatosis Type 1: Frequent Surgeries and Cardiovascular Crises Indicate the Need for Screening

Clin Diabetes Endocrinol. 2018 Jun 22;4:15. doi: 10.1186/s40842-018-0065-4. eCollection 2018.

Abstract

Background: Pheochromocytomas and Paragangliomas (PCC/PGL) are rare endocrine tumors that are mostly benign, but often hormone producing, causing significant morbidity and mortality due to excess catecholamine secretion and cardiovascular crises. It is estimated that 30% of PCC/PGL are due to germline mutations, including Neurofibromatosis type 1 (NF1). There is little published data describing the phenotype of NF1-associated PCC/PGL and there are no established recommendations for PCC/PGL screening in NF1.

Methods: We conducted a retrospective chart review of 17 patients with NF1-associated PCC/PGL who received care at a large academic referral center between the years of 1992-2016.

Results: Average age of diagnosis was 42 years old. Both genders were equally affected. Average tumor size was 3.9 cm. Nine patients were hypertensive; one had orthostatic hypotension; three had tachycardia; the remaining two patients had normal BP and HR. Most tumors were benign, unilateral adrenal tumors that were hormonally active. Two had metastatic disease. Six patients experienced cardiovascular crises; three of which occurred during elective surgeries for neurofibroma removal, and a fourth occurred during labor and delivery.

Conclusion: These data highlight the importance of screening for PCC/PGL in NF1, especially prior to surgical procedures and pregnancy, labor and delivery as these events can trigger a cardiovascular crisis. Screening is easily accomplished with plasma or urine free fractionated metanephrine levels.

Keywords: Cardiovascular crisis; Hereditary tumor syndrome; Neurofibromatosis; Paraganglioma; Pheochromocytoma; Screening; Type 1.