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Von Hippel Lindau Disease - Von Hippel Lindau Disease symptom, treatment, causes

Von Hippel Lindau Disease is an inherited condition characterised by the development of haem angiomas (tumours composed of an overgrowth of blood vessels), mostly in the eyes and cerebellum (the part of the brain that coordinates voluntary muscle activity). Inheritance is autosomal dominant ,which means that if oneparent is affected, at least half the children will inherit the disease. The number, size and site of haemangiomas is variable. Affected people may also develop KIDNEY CANCER, PHAEOCHROMOCYTOMA (a tumour of the adrenal glands), or cysts in the kidneys and pancreas.

Von Hippel-Lindau disease (VHL) is a rare genetic disorder (affecting approximately 1 in 36,000 people) in which some blood vessels grow in an abnormal way and cause tumors in parts of the body that are rich in blood vessels. The tumors of the central nervous system (CNS) are benign and are comprised of a nest of blood vessels and are called hemangioblastomas (or angiomas in the eye). Angiomas may develop in the brain, the retina of the eyes, and other areas of the nervous system. Other types of tumors develop in the adrenal glands, the kidneys, or the pancreas. Symptoms of VHL vary among patients and depend on the size and location of the tumors. The greatest risk of von Hippel-Lindau is the development of kidney cancer. About 10 percent of people with von Hippel-Lindau syndrome develop noncancerous tumors (called endolymphatic sac tumors) in the inner ear. These growths can cause hearing loss in one or both ears, as well as ringing in the ears (tinnitus) and problems with balance. Von Hippel-Lindau syndrome can be divided into two major types based on the risk of developing pheochromocytomas. Type 1 von Hippel-Lindau syndrome is associated with a low risk of these tumors, and type 2 is characterized by a much higher risk. Type 2 can be further divided into types 2A, 2B, and 2C, depending on the probability of developing renal cell carcinoma and hemangioblastomas.

Causes of Von Hippel Lindau Disease

The common Causes of Von Hippel Lindau Disease :

• Hemangioma.
• Retinal pathology.
• Cerebellar syndrome.
• Phakomatosis.
• Intracranial space-occupying lesion.
• Renal cysts.
• Pancreatic cyst.

Symptom of Von Hippel Lindau Disease

Von Hippel Lindau Disease usually appear in early adulthood. Visual disturbances are the most common symptoms, because of haem angiomas developing in the retina (the light-sensitive lining of the back of the eye). Both eyes may be affected. In about 20 per cent of patients, disorders of balarice and other symptoms of disturbed cerebellar function appear first. Some common Symptoms of Von Hippel Lindau Disease :

• Headaches
• Dizziness
• Eye hemangiomas
• Visual changes
• High blood pressure
• Kidney Cysts / Kidney Cancer
• Walking problems
• Changes in balance and strength

Diagnosis and Treatment of Von Hippel Lindau Disease

Von Hippel Lindau Disease Diagnosis is by finding typical changes in the retina on ophthalmoscopic examination, or discovering the haemangiomas in the cerebellum by CAT scan. Small haemangiomas in the retina can be treated by Jaser or freezing, but larger turnours in the eyes and cer-ebellum may need surgical removal.

• Retinal hemangioblastoma are treated by cryotherapy or laser depending on the location, size and number of tumours.
• Medical perspectives: several clinical studies are on-going with specific drugs that block VEGF in the hope of causing stabilisation or recession of CNS and retinal hemangioblastomas.
• Pancreatic neuroendocrine tumours require surgical removal at a 2-3 cm size in order to avoid metastatic dissemination.
• Treatment of symptomatic CNS hemangioblastoma remains mainly neurosurgical, often in emergency, but stereotactic radiosurgery is emerging as an alternative therapeutic procedure in patients with multifocal solid hemangioblas
• Pheochromocytomas have to be surgically removed, preferentially with the use of laparoscopy. When possible, partial adrenalectomy appears to be a safe method of preserving adrenocortical function and quality of life.