Life expectancy is reduced for individuals with this condition and one study found a median age of death at 52 years.CNS hemangioblastomas are the cardinal feature of VHL and occur in as many as 80% of cases. The most common locations include the cerebellum, spinal cord and brainstem. These tumors are benign however they may cause significant morbidity as well as mortality due to mass effect. Tumor growth rates can be highly variable. Treatment options include resection and radiation.Retinal hemangioblastomas occur in approximately half of patients and are often the first presenting manifestation of VHL. One longitudinal study that followed patients for a mean period of 7.3 years found that in individuals with unilateral disease 100% had bilateral involvement by the age of 56 years. Blindness or severe visual impairment occurs in less than 10% of patients. Laser photocoagulation and cryotherapy are the most common surgical treatments.Renal cell carcinoma is a major cause of death in patients with VHL and it occurs in 70% of patients. Lesions larger than 3 cm are associated with a risk of metastasis and thus present a recommended threshold for resection. Nephron sparing surgery allows for preservation of kidney function and 10-year survival rates up to 81%.Additional manifestations of VHL may include pheochromocytomas in as many as 16% of patients with VHL. They are most often unilateral but can be bilateral or multifocal. Approximately 5% are malignant.Pancreatic involvement occurs in 77% of patients with VHL. Asymptomatic cysts consist of the majority of cases. Neuroendocrine tumors occur in approximately 15% of cases.
Statistically significant results were found in the percentage of normal brains that had a normal circle of Willis and those that had cerebral softening and had a normal circle of Willis. The results yielded 52% of normal brains having a normal circle of Willis, while only 33% of brains with cerebral softening had a normal circle of Willis. There were also a higher number of string-like vessels in brains with cerebral softening (42%), than there were in normal brains (27%). These results point to an assumption of a higher incidence rate of anomalies in brains with cerebral softening versus those that do not have cerebral softening. Types of softening
Red softening
Red softening is one of the three types of cerebral softening. As its name suggests, certain regions of cerebral softening result in a red color. This is due to a hemorrhagic infarct, in which blood flow is restored to an area of the brain that was previously restricted by an embolism. This is termed a "red infarct" or also known as red softening.Upon autopsy of several subjects, Dr. Cornelio Fazio found that the most common areas of this type of softening occurred where there was a hemorrhage of the middle cerebral artery or the superior or deep branches to it. The subjects softened area was not always near the arteries but where the capillaries perfused the brain tissue. The symptoms were similar to that of a stroke. White softening
White softening is another form of cerebral softening.