[Von Hippel-Lindau disease. Interdisciplinary patient care]. / Von-Hippel-Lindau-Erkrankung. Interdisziplinäre Patientenversorgung.

Von Hippel-Lindau disease is an important hereditary tumor syndrome with a clear option for effective treatment if diagnosed in time. Interdisciplinary cooperation is the key to successful management. Major components of the disease are retinal capillary hemangioblastomas, hemangioblastomas of cerebellum, brain stem and spine, renal clear cell carcinomas, pheochromocytomas, multiple pancreatic cysts and islet cell carcinomas, tumors of the endolymphatic sac of the inner ear, and cystadenomas of the epididymis and broad ligament. A well structured screening program should be performed at yearly intervals.

The history of von Hippel-Lindau disease.

von Hippel-Lindau (vHL) disease is a heritable multisystem cancer syndrome that is associated with a germ line mutation of the vHL tumor suppressor gene on the short arm of chromosome 3. Affected individuals are at risk of developing various benign and malignant tumors of the central nervous system, kidneys, adrenal glands, pancreas, and epididymis. The name of this disease derives from two prestigious European physicians, Eugen von Hippel and Arvid Lindau, but many others played an important part in the description of the disorder. vHL disease has an old and modern history, thanks to the advent of new radiology and molecular biology diagnostic techniques.

Dr. Arvid Lindau and discovery of von Hippel-Lindau disease.

Arvid Lindau, MD, PhD, consolidated the disparate array of benign and malignant visceral and nervous system lesions into the neoplastic syndrome known as von Hippel-Lindau (VHL) disease. Based on this pioneering work, Dr. Lindau was awarded both a Rockefeller fellowship to work in Dr. Harvey Cushing's laboratory in Boston, Massachusetts, and the Lennmalm Prize. While working in Dr. Cushing's laboratory, Dr. Lindau continued his study of CNS hemangioblastomas. His work with Dr. Cushing led to their lifelong friendship and scientific collaboration. In this paper the authors describe Arvid Lindau's pioneering work in nervous system tumor pathology, his relationship to Dr. Cushing, and his role in advancing neurological surgery and research in Europe.

[Von Hippel-Lindau syndrome]. / Zum v. Hippel-Lindau-Syndrom.

The von Hippel-Lindau syndrome is an autosomal dominant condition that comprises, apart from angiomas of the retina, the cerebellum, the spinal cord, and the cerebrum, also cystic and blastomatous dysplasias resulting from maldevelopment, namely cystic kidney and pancreas, hypernephroma, and pheochromocytoma. Early observers of the syndrome were the English neurologist John Hughlings Jackson (1872) and the German ophthalmologist Hugo Magnus (1874). The typical association of angiomas of the retina with the cerebellum was first described in 1905 by the Prague ophthalmologist Wilhelm Czermak, long before Lindau (1926). The fact that hypernephromas and pheochromocytomas may form parts of it characterizes the syndrome as a polyneoplastic hereditary disease and the sufferers as members of families at risk. Since the ophthalmologist is often the first to recognize this disease by direct inspection of the fundi, he is responsible for ensuring proper medical care for the affected person and his or her entire family.