What is Von Hippel-Lindau (VHL) Disease?
Von Hippel-Lindau (VHL) is a rare, autosomal dominant condition that manifests as a result of genetic mutation. It is characeterized by the development hemangioblastomas (tumors of the blood vessels) in various parts of the body like the spinal cord, cerebellum, and retina. VPL is associated with various pathological manifestations such as renal cell carcinoma (clear cell variety), renal angioma, and pheochromocytoma. VHL occurs as a result of the von Hippel-Lindau tumor suppressor gene mutation (alteration) in especially the chromosome, 3p25.
What causes the VHL disease?
VHL is a rare, genetic syndrome with an autosomal dominant trait. Therefore the features of VHL and cancer risk can be passed onto all the generations of the family. The associated gene of the VHL is also referred to as VHL. A genetic mutation of the VHL gene in the chromosome increases the likelihood of developing cancer of the kidneys and other associated VHL symptoms. Each patient with a VHL syndrome presents with a significant genetic mutation in the VHL gene.
How is the VHL condition inherited?
Each person normally has 2 gene copies in every cell: 1 copy is inherited from the maternal chromosome and the other one inherited from the paternal chromosome. VHL is caused by the mutation of only one gene copy and the syndrome thus inherits in an autosomal dominant course. To be more specific, one of the parents with a mutated gene can either pass a normal gene copy or a mutated gene copy to the offspring.
What is the prevalence of VHL?
The predilection of VHL syndrome is about 1 in 30,000 people. About 20% of VHL inherited patients have a de novo (new), VHL gene mutation with no apparent family history of the disease.
What are the signs and symptoms of Von Hippel-Lindau condition?
The signs and symptoms of the Von Hippel-Lindau (VHL) disease include dizziness, headaches, problem walking or balancing, vision problems, high blood pressure and weakness of the limbs. Other VHL associated conditions include hemangioblastomas, angiomatosis, Angiomatosis of the retina, pheochromocytoma, pancreatic cysts (pancreatic serous cystadenoma), renal cell carcinoma, and cafe au lait spots. Other organs can get affected due to cardiovascular disease, strokes, and associated diseases.
How is the VHL disease diagnosed?
VHL is diagnosed when the patient presents with a prominent, VHL characteristics such as:
Young patients with VHL present with multiple, renal cell carcinomas (clear cell variety) that spread bilaterally.
One hemangioblastoma, pancreatic cysts, kidney cysts, kidney cancer, or Pheochromocytoma,
Patients with VHL family history are more likely to present with more than one VHL symptom which include kidney cancer or pheochromocytoma, hemangioblastoma, and pancreatic or kidney cysts.
Multiple hemangioblastomas (tumors of the blood vessels) that affect the spinal cord, brain, or eye
VHL disease is diagnosed with a genetic test that determines the VHL gene mutation and almost all VHL patients present with a VHL genetic mutation.
What are the estimated VHL associated cancer risks?
Patients with a family history of VHL are at a risk of developing kidney cancer by 40%.
What are the screening tests that are done in VHL patients?
Screening tests are specific to each patient and one should discuss with their concerned physician. Some of the screening tests that are commonly performed include:
Annual physical examination
Periodic yearly Eye check-ups for patients above 2 years to detect retinal tumors
Periodic yearly 24-hour urine test for patients above 2 years to detect raised catecholamine levels
Other yearly done tests include abdominal ultrasound to determine the condition of pancreas, kidneys, and adrenal glands for teens; abdominal computed tomography (CT or CAT) scan for adults; Magnetic resonance imaging to detect the abnormalities of the brain including spine.
What is the treatment for Von Hippel-Lindau (VHL) Disease?
Currently, the VHL mutation in patients is irreversible and the treatment is only aimed at reducing the complications of the condition. Early detection and treatment of specific VHL manifestations substantially improves the patient's quality of life. A vigorous research program has been done to effectively prevent and treat VHL associated tumors that affect the brain and spinal cord.