CLINICAL STATUS OF VON HIPPEL-LINDAU DISEASE ASSOCIATED PHEOCHROMOCYTOMA IN JAPAN: A NATIONAL EPIDEMIOLOGIC SURVEY

Abstract

(Purpose) To understand the current clinical status of pheochromocytoma (Pheo) in patients with von Hippel-Lindau disease (VHL) in Japan. (Patients and methods) We picked up and summarized Pheos from a nationwide epidemiologic survey for VHL disease based on the epidemiologic study program for incurable disease by the Japanese Ministry of Health, Labour and Welfare. The details of the survey included age of onset, sex, living area, treatment modalities, functional status of the adrenal gland after surgical treatment, and patient outcome. (Results) The incidence rate of Pheo in VHL disease in Japan was 15.1% (62/409). Males and females were equally affected. The mean and median ages of onset were 29.7 and 31.5 years, respectively. The age of onset was distributed between 10 and 75 years and presented two large peaks between 15-20 and 35-40 years. Twenty-six (41.9%) bilateral cases, 8 (12.9%) paragangliomas, and 4 (6.4%) malignant cases were found. Forty-one (65%) patients underwent surgical resection once and 13 (9%) underwent 2 or 3 times surgeries whereas six (10%) nonfunctional cases were surveyed without surgical treatment. Fourteen of 26 bilateral Pheos (56%) received steroid replacement therapy following surgery. Four cases died from metastases of malignant Pheos and one from a severe infection during steroid replacement therapy. None of the patients died of cardiovascular complication due to Pheo crisis. (Conclusion) It is concluded that Pheos in VHL disease developed from a relatively young age and was associated with 15% of all patients, including a small ratio of malignant cases. More than 40% of cases suffered bilateral adrenal tumors. The clinical features in Japan appear to be similar to those in the Western countries according to the current survey.