von Hippel-Lindau disease is genetically inherited in an autosomal dominant fashion as a mutation of the short arm of chromosome 3. As such, a genetisist would be able to confirm a vHL diagnosis. Typically, however, diagnoses are made clinically. The following symptoms may be indicative of vHL disease: cafe-au-lait lesions of the skin renal cell carcinomas resulting in painless hematuria, abdominal mass, and costovertebral pain hemangioblastomas resulting in brain dysfuction and damage pheochromocytomas resulting in wide fluctuations in blood pressure following acute anxiety pancreatic cysts and carcinomas retinal angiomatosis resulting in vision deficits and blindness Other associated symptoms may include hypertension, heart palpitation, malabsorption, anorexia, weight loss, headache, pallor, anxiety, and photosensitivity. All issues of personal health should be addressed by your physician or health care provider. This information is not intended to supplant or supplement the advise of a medical professional.
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