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Abstract
Background. von Hippel-Lindau disease is an autosomal dominant disorder characterized by the
development of hemangioblastomas in the cerebellum, spinal cord, and retina, renal
cell carcinoma and cysts, pancreatic cysts, and pheochromocytoma.
Methods. We have studied a series of 36 French, patients affected with von Hippel-Lindau disease
pheochromocytoma. Thirty (83%) of them were diagnosed as having von Hippel-Lindau
disease because the disease occurred in a familial von Hippel-Lindau disease setting;
six (77%) were diagnosed as having von Hippel-Lindau disease because they displayed
another characteristic manifestation of that disease.
Results. The mean age at pheochromoeytoma diagnosis was 29 ± 14 years (5 to 62 years). Bilateral
tumors were documented in 15 (42%) cases, paraganglioma was associated with adrenal
pheochromocytoma in four cases, and malignant pheochromocytoma occurred in three cases.
Prevalence of pheochromocytoma revealing von Hippel-Lindau disease was 20 (53%) out
of 36. In six cases pheochromocytoma was the only manifestation of the disease.
Conclusions. In the interest of the patients themselves and of family members who are at risk,
search for von Hippel-Lindau disease must be systematic in the presence of pheochromocytoma.
Basic checkup may be completed with familial inquiry, ophthalmoscopy, cerebral magnetic
resonance imaging, abdominal ultrasonography, and computed tomogrophy-scan for detection
of latent lesions. In the future, after characterization of von Hippel-Lindau disease
gene mutations, molecular diagnosis is going to be possible in individual patients.
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Article info
Footnotes
☆Supported by grants from Association Française contre les Myopathies and Comité du Cher de la Ligue Nationale contre le Cancer.
☆☆Presented at the Fifteenth Annual Meeting of the American Association of Endocrine Surgeons, Dearborn, Mich., April 17–19, 1994.
Identification
Copyright
© 1994 Published by Elsevier Inc.
