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Clinical and Pathological Manifestations in Nine Families With 50 Affected Members

William A. Horton, MD; Vernon Wong, MD; Roswell Eldridge, MD

Arch Intern Med. 1976;136(7):769-777.

Abstract
Fifty individuals in nine families had von Hippel-Lindau disease. Nearly all of the morbidity and mortality of the entity is associated with six of its manifestations, each of which can be successfully treated. Retinal angiomatosis, which occurs in more than half of those affected, can produce blindness if not treated. Cerebellar hemangioblastoma, which is observed in one third of patients, is the most common source of initial symptoms and caused more than half of the deaths in the series. Medullary and spinal hemangioblastomas occur infrequently. Pheochromocytoma is common in certain families and is usually bilateral. Renal cell carcinoma, which generally arises at a later age, may befall the patient who is successfully treated for the tumors that occurred earlier. However, this tumor can be treated also, if there is early detection.

(Arch Intern Med 136:769-777, 1976)

Author Affiliations
From the Section on Neurogenetics, National Institute of Neurological and Communicative Disorders and Stroke, National Institutes of Health (Drs Horton and Eldridge), and the Department of Ophthalmology, Georgetown University School of Medicine, Washington, DC (Dr Wong). Dr Horton is now at Harbour General Hospital, Los Angeles.

Footnotes
Received for publication Nov 19, 1975; accepted Dec 15.

Reprint requests to National Institutes of Health, Building 31, Room 8A-34, 9000 Rockville Pike, Bethesda, MD 20014 (Dr Eldridge).

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