Acta Médica del Centro (Sep 2009)
Von Hippel-Lindau disease (VHLD)
Abstract
Von Hippel-Lindau disease is one the 7000 known hereditary disorder. It is named after Dr. Eugen von Hippel; a German ophthalmologist who was the first to described the ocular angiomas in 1895. Equally, Dr. Arvid Lindau, a Swedish pathologist, begins the study of the angiomas in the cerebellum and the spinal cord marrow in 1926. His description includes a systematic recompilation of all the cases published up to that time, including those described by von Hippel, but adding also the alterations in other abdominal organs. It is an autosomal dominant neoplasia syndrome caused by the deletion or mutation of the tumor suppressor gene of the 3p25 chromosome, characterized by the presence of benign and malignant tumors affecting several organs and systems such as: the central nervous system, the pancreas, the adrenal glands and the paranodes. In general, the disease is hereditary; but the health problems affecting the patients can be so varied that the common cause may not be identified. Besides, the appearance and severity of the disease have a great variation, and within the same family there are individuals slightly affected while others present more serious manifestations.
