Von Hippel-Lindau Disease

(VHL)

Definition

Von Hippel-Lindau disease (VHL) is a rare genetic disorder in which some blood vessels grow in an abnormal way and cause tumors in parts of the body that are rich in blood vessels.

Causes

VHL is caused by an abnormal change in a gene on chromosome 3, which normally functions to produce a protein that acts as a suppressor of tumor growth. This gene mutation, which is passed on from parent to child, results in the uncontrolled growth of some capillaries. Capillaries are tiny blood vessels. Instead of growing normally like the branches of a tree, these blood vessels grow in a small knot. The knot forms a growth or tumor called an angioma or a hemangioblastoma, most commonly in the eye and brain. VHL is also associated with other tumors, some of which are cancerous, as well as abnormal cysts throughout the body.

Risk Factors

The only known risk factor for VHL is having family members with VHL.

Symptoms

There is wide variation in the age at which VHL begins, the organs where problems occur, and the types and severity of symptoms. These differences occur even among members of the same family.Although there is no consistent set of symptoms, the most common ones are:
  • Vision problems
  • Headaches
  • Difficulty walking
Blood Vessels in the Retina of the Eye
AR00025 96472 1
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Diagnosis

Your doctor will ask about your symptoms and medical history. A physical exam will be done. If you have any VHL symptoms, you should consider being tested for the gene. This is advised even if you have no known family history of the disease. You could be the first person in your family to have VHL. Or you could be the first one to have it properly diagnosed since many people are not aware they have it.A blood test that analyzes DNA may be done to determine if you have the VHL gene. Not all families with VHL have an identifiable VHL mutation. If members of your family are positive for the gene and you are not, you do not need any further testing.However, if other family members have been diagnosed with VHL despite a negative genetic test, or if you test positive for the VHL gene, you need to have regular medical exams and tests to uncover early signs. Even in the absence of symptoms, screening should begin in childhood and continue periodically throughout life.Screening for VHL complications includes a physical exam with special attention to your eyes and nervous system.Your bodily fluids may be tested. This can be done with:
  • Blood tests
  • Urine tests
Images may be taken of your bodily structures. This can be done with:

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