Nineteen percent of 82 unselected patients with pheochromocytoma studied at the University of Freiburg, Germany, and the University of California, San Diego, were found to be gene carriers of von Hippel-Lindau disease. Thirty-eight percent of carriers of von-Hippel-Lindau disease had pheochromocytoma as the only manifestation of their syndrome. In 12 of 14 families with von Hippel-Lindau disease, pheochromocytoma, retinal angiomatosis, and hemangioblastoma of the central nervous system occurred in the absence of renal, pancreatic, and epididymal lesions, which suggests a distinct subtype of the disease with unique molecular-genetic characteristics. Hemangioblastoma developed in 17% of carriers. [1]

COMMENT. All patients with pheochromocytomas should be screened for von Hippel-Lindau disease by ophthalmoscopy and MRI of the brain. Retinal angiomas are usually asymptomatic. Hemangioblastoma of the CNS has an excellent prognosis if recognized and removed early.

A three-decade investigation of familial pheochromocytoma involving 619 descendants of 3 siblings of German origin, reported from the University of Pittsburgh [2]. showed that education and screening decreased mortality. Symptoms on presentation were the classic triad of sweating, nervousness, and headaches. Weight loss, nausea, vomiting, and abdominal pain were more common in children than in adults with pheochromocytoma. Six had von Hippel-Lindau disease manifested by cerebellar hemangioblastoma or retinal angioma, one becoming blind from bleeding. Regular screening and early diagnosis are important to prevent blindness.