Web Resources

http://www.vhl.org/
http://ghr.nlm.nih.gov/condition/von-hippel-lindau-syndrome

Inheritance

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Medical Information

Von Hippel-Lindau Syndrome

Background and History

This syndrome is named for Eugen von Hippel, a German ophthalmologist, and the Swedish pathologist, Arvid Vilhelm Lindau, who separately described its features in the early 20th century.

Clinical Correlations

This inherited disorder is associated with the formation of tumors, benign and malignant, in many organs.  These are mostly vascular growths and are often associated with fluid-filled cysts.  A type of tumor called hemangioblastoma is the most common and usually located in the retina of the eye, in the brain, and in the spinal cord.  Those in the brain are most likely to cause initial symptoms such as headaches, weakness, vomiting and poor muscle coordination.  Sixty per cent of patients develop such tumors.  The diagnosis of von Hippel-Lindau is commonly made in the second decade of life.  When located in the eye they may cause blurring or loss of vision.

Other tumors are often found in the kidney (renal cell carcinomas), adrenal glands (pheochromocytomas) and pancreas.  All of these may have associated cystic changes.

Genetics

This is an autosomal dominant disorder requiring only a single mutation to confer susceptibility.  The inheritance pattern is a vertical one as the mutation is transmitted directly from parent to child with a 50% chance.  Perhaps 20% of patients with this disorder have no family history of it and it is assumed that they acquired a new mutation.

Diagnosis and Prognosis

The diagnosis can be made by physicians of multiple specialties depending upon the location of the tumors with the associated symptoms.  Those in the brain usually cause the earliest symptoms and are often difficult to remove.  Kidney cancers are most commonly the cause of early death.  Pheochromocytomas of the adrenal gland are usually benign growths but can cause hypertension and an increase in red blood cells.  The vascular growths in the retina of the eye can sometimes be treated by laser but the visual outcome is uncertain.