Von Hippel–Lindau disease

A genetic disorder involving the abnormal growth of blood vessels that usually occurs in certain areas of the body, such as the brain and other parts of the central nervous system, the retina of the eye, the adrenal glands, the kidneys, or the pancreas. The prevalence of the disease is unknown, but a parent who carries the gene that causes Von Hippel–Lindau (VHL) disease has a 50 percent chance of having a child with the disorder.

Blood vessels usually grow like branches on a tree, but in children with VHL they form small tumors called angiomas. Doctors carefully monitor angiomas because in certain areas they can cause other medical problems. For example, angiomas on the retina of the eye may lead to permanent vision loss.

Diagnosis
VHL is diagnosed using a special type of X ray called magnetic resonance imaging (MRI) or a computerized tomography (CT) scan. A thorough physical examination and blood tests are also performed.

Symptoms
There are many symptoms of VHL, and they depend on the size and location of the angiomas. Symptoms include headaches, balance problems, dizziness, weakness, vision problems, and high blood pressure. Fluid-filled cysts or tumors (benign or cancerous) may develop around the angiomas, worsening these symptoms. Children with this disorder have a higher risk of developing cancer, especially kidney cancer.

Treatment
VHL is treated depending on the size and location of the angiomas. The goal of treatment is to treat the tumors while they are small and before they put pressure on any of the major organs, such as the brain and the spine. Surgery may be required to remove the tumors before they create severe problems.

Prognosis
The prognosis for VHL patients depends on both the location and the complications caused by the tumors. If untreated, VHL may result in blindness or permanent brain damage. Fortunately, early detection and treatment can improve a child’s treatment outcome.