Von Hippel-Lindau syndrome

Von Hippel-Lindau Disease

Von Hippel-Lindau syndrome (VHL) is a rare genetic disorder characterized by an increased risk of developing tumors. Signs and symptoms of VHL depend on the organ/organs targeted by the disease. Tumors in the brain can cause headaches, seizures, visual changes, balance problems, nausea or vomiting, depending on the location with the brain. If the disease involves the eyes, the patient can develop bleeding in the eye and retinal detachment. If the kidney is the targeted organ, the patient may present with bloody urine, pain in the loin, weight loss, anemia, or abdominal mass. 

Tumors in the adrenal gland may cause flank pain, heart palpitations, increased heart rate, anxiety, headaches, and sweating. Diagnosis is made by the presence of one or more hemangioblastomas with the central nervous system, usually within the cerebellar region of the brain and retina, inconsistent visceral lesions and frequent family incidence.