VHL syndrome

Von Hippel-Lindau syndrome (VHL syndrome) is a rare, genetic disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in multiple organs. It is caused by mutations in the VHL gene on chromosome 3p25-26. The condition is named after the German ophthalmologist Eugen von Hippel and the Swedish pathologist Arvid Lindau.

Clinical Features

Individuals with VHL syndrome are at risk for developing a variety of benign and malignant tumors. The most common types of tumors associated with VHL syndrome include:

• Hemangioblastomas: These are benign tumors of the blood vessels that can occur in the cerebellum, spinal cord, and retina.
• Renal cell carcinoma: A type of kidney cancer that is more likely to occur in individuals with VHL syndrome.
• Pheochromocytoma: A tumor of the adrenal gland that can cause high blood pressure.
• Pancreatic cysts and neuroendocrine tumors: These can occur in the pancreas and may or may not be cancerous.
• Endolymphatic sac tumors: These are rare tumors of the inner ear that can cause hearing loss.

Genetics

VHL syndrome is inherited in an autosomal dominant manner, meaning that a mutation in just one of the two copies of the VHL gene is sufficient to cause the disorder. Each child of an affected parent has a 50% chance of inheriting the mutation.

Diagnosis

Diagnosis of VHL syndrome is based on clinical criteria and genetic testing. The presence of characteristic tumors and cysts, along with a family history of the disorder, can suggest the diagnosis. Genetic testing can confirm the presence of a mutation in the VHL gene.

Management

Management of VHL syndrome involves regular surveillance and early treatment of tumors and cysts. This may include:

• Regular MRI scans of the brain, spine, and abdomen.
• Annual eye exams to detect retinal hemangioblastomas.
• Blood pressure monitoring and biochemical testing for pheochromocytomas.
• Surgical removal of tumors when necessary.

Prognosis

The prognosis for individuals with VHL syndrome varies depending on the types and locations of tumors that develop. Early detection and treatment of tumors can improve outcomes and reduce complications.

Related Pages

• Genetic disorder
• Tumor
• Hemangioblastoma
• Renal cell carcinoma
• Pheochromocytoma
• Autosomal dominant
• MRI