Von Hippel-Lindau Disease

Below you will find more information about Von Hippel-Lindau Disease from Medigest. If you believe that you are suffering from any of the symptoms of Von Hippel-Lindau Disease it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Von Hippel-Lindau Disease and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Von Hippel-Lindau Disease comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

Von Hippel-Lindau disease or VHL for brevity is a rare genetic condition which usually involves the unusual and abnormal growth of tumors in different parts of the body which is usually rich in blood supply.

Diagnosis

Genetic Testing, CT Scan, Biopsy and Magnetic Resonance are used to confirm the condition including examination of the location and number of tumors in the body.

Treatment

Medical treatment depends on which tumors the person has. Surgical removal of tumors are also used (Bushan,V., et al. (2002) Blackwell's Underground Clinical Vignettes, Blackwell Publishing, p. 35). Complete and regular physical examination including undergoing Magnetic Resonance Imaging or MRI and CT Scan are also advised for person having the condition.

Symptoms and Signs

Symptoms includes manifestation of angiomatosis or the appearance of the little knots of capillaries in the retina and organs of the body; hemangioblastomas or the tumor appearing in the central nervous system of the person especially the brain stem and the central nervous system; oheochromocytoma or the tumor of the adrenal medulla and the renal cell carcinoma or the malignant tumor of the kidney and the cysts and tumors in the pancreas which may be neuroendocrine tumors. Can be visualised by CT scan.

Causes

It is a genetic or inherited disease caused by the mutation of the Von Hippel-Lindau Suppressor or the VHL gene on the short arm of chromosome 3.

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