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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