The Brigham and Women’s Brain Tumor Service specializes in the diagnosis and treatment of von Hippel-Lindau (VHL) syndrome, a rare genetic disorder that affects the brain and other parts of the body. It affects about one in every 36,000 people in the U.S.
What Is Von Hippel-Lindau Syndrome (VHL)?
Von Hippel-Lindau syndrome is caused by a flaw in one gene, the VHL gene, which regulates cell growth. This flaw, for which the cause is unknown, leads to the abnormal growth of blood vessels in certain parts of the body. Instead of growing and spreading out normally (like a tree), in patients with VHL, the blood vessels grow into clumps. The disease is also characterized by an increased risk of developing the following types of tumors:
Hemangioblastomas of the central nervous system - benign (noncancerous) tumors made up of nests of blood vessels in the brain and spine
Hemangioblastomas of the retina
Pheochromocytomas – a neuroendocrine tumor, usually benign, within or outside of the adrenal gland
Renal cell carcinoma - cancerous tumor of the kidney that occurs in about 70 percent of individuals with VHL
VHL may also impact the pancreas, inner ear, and reproductive organs (in men and women).
How Is VHL Diagnosed?
Detection of the type of tumors specific to VHL is critical to properly diagnosing the disease. For individuals who have a family history of VHL, detection of only one type of tumor specific to VHL may be sufficient to make a diagnosis. For those patients without a family history of the disease, at least two types of VHL tumors should be identified to confirm a diagnosis. Genetic testing also may helpful in diagnosing the disease.
How Is Von Hippel-Lindau Syndrome (VHL) Treated?
Although there is no cure for VHL, the associated tumors can be treated. Early detection and treatment of tumors significantly improves a patient’s diagnosis. Left untreated, VHL may result in blindness, permanent brain damage, or death. Depending on the location of the tumors, our neurosurgical specialists may also collaborate with urologists, ophthalmologists, endocrinologists, and other physicians.
Hemangioblastomas of the central nervous system
Microsurgical treatment of hemangioblastomas of the CNS is often ineffective, as the tumors tend to recur after surgery. Stereotactic radiotherapy, a safe, non-invasive method for shrinking tumors, may present a better alternative. It has been shown that small- and medium-sized tumors don’t tend to re-grow after this type of treatment.
Hemangioblastomas of the retina
Hemangioblastomas of the retina are typically treated with a laser.
Renal cell carcinoma
Depending on the extent of the disease, renal cell carcinoma may either be treated with nephron-sparing surgery (removing the tumor while sparing the unaffected portion of the kidney) or a radical nephrectomy (removal of the whole kidney).
How Can I Learn More About Von Hippel-Lindau Syndrome?
For more information regarding Von Hippel-Lindau Disease, visit:
VHL Family Alliance - dedicated to improving diagnosis, treatment, and quality of life for individual and families afflicted by VHL
Brain Tumor Society - provides resources for patients, survivors, family, friends and professionals