Von Hippel-Lindau

Von Hippel-Lindau (VHL) disease is a genetic disorder of abnormal growth of blood vessels that develop into angiomas or tumors. Angiomas can occur in various parts of the body but generally occur in areas rich in blood vessels, such as in the eye. Problems occur when the angioma grows causing the walls of the blood vessels to weaken and potentially leak. When leakage occurs, damage may result in surrounding tissues and affect organs. Overall, approximately one in 32,000 people in the world has VHL, but the disorder does not favor specific ethnic groups.

VHL is named after two doctors. Dr. Eugene Von Hippel described the genetic condition of the abnormal growth of blood vessels that develop into angiomas or tumors. His particular area of interest and research involved the eye, specifically angiomas in the retina. Dr. Arvid Lindau identified tumors of the spine and brain and is usually associated with VHL in the central nervous system.

How is VHL detected?

As every person is different, so is the severity and onset of VHL, although it usually occurs in adulthood. Anyone with a history of VHL in his or her family should consult with a medical professional about what to do should the symptoms arise. Sometimes, VHL shows no signs or symptoms and the only definitive diagnosis is through DNA testing for the genetic marker, which is important because children can be affected.

An angioma in the eye may be one of the earliest signs of VHL disease. Such angiomas can occur beneath and on top of the retina and are identified by eye care professionals as lesions. If an angioma or blood vessels leak, the retina can detach and result in blindness. If no leakage is identified, careful monitoring of the tumor and its growth is essential in order to prevent retina detachment. Angiomas in the retina or optic nerve are usually not cancerous. These tumors tend to progress slowly, so early detection is key to preventing retina detachment.

Can VHL be cured?

The treatment of the retinal angioma depends on its severity and the diagnosis pertaining to any present lesions. Small lesions are easy to treat with laser surgery. For large tumors, eye care specialists may recommend cryotherapy. People with a history of VHL may undergo CT or MRI imaging scans to monitor tumor growth both in the eye as well as other parts of the body. So far, there is no cure for VHL. Research and studies continue in order to help people and professionals better manage VHL.