von Recklinghausen's disease and pheochromocytomas

We review the literature and characterize the clinical findings of von Recklinghausen's associated pheochromocytoma.

A Grateful Med search for the years 1966 to 1999 was performed on the subjects, "von Recklinghausen" and "neurofibromatosis." Articles from the Grateful Med search were then reviewed to identify older publications. Of 325 articles 118 are included in this review.

Pheochromocytomas have been clinically identified in 0.1 to 5.7% of patients with von Recklinghausen's disease. Mean patient age was 42 years (range 1.5 to 74) in 87 women and 61 men at presentation with pheochromocytoma. Of the 148 patients 84% had solitary adrenal tumors, 9.6% bilateral adrenal disease and 6.1% ectopic pheochromocytomas. Symptoms related to pheochromocytoma or hypertension were noted in 78% of the patients. Tumors secreted epinephrine and norepinephrine, and 87% demonstrated metaiodobenzylguanidine uptake. Of the 148 patients 6% died during pregnancy or a medical procedure, or due to hypertensive crisis without apparent provocation, 8.8% had gastrointestinal carcinoid tumors and 11.5% had metastases or local invasion from pheochromocytoma.

Pheochromocytomas occur in a small but defined number of patients with von Recklinghausen's disease, and can be associated with significant morbidity and mortality if not detected. Screening of patients with von Recklinghausen's disease and hypertension or before provocative procedures or pregnancy seems to be indicated.