Skip to main content

Von Hippel-Lindau Disease (VHL)

Von Hippel-Lindau Disease (VHL)



Overview

von Hippel-Lindau disease (VHL) is a rare genetic disorder that significantly increases the chance that you’ll have certain kinds of cancerous (malignant) tumors and noncancerous (benign) tumors and cysts. Healthcare providers may call this condition von Hippel-Lindau syndrome.

The condition happens if you inherit a specific genetic mutation (change). Research shows that by the time they’re 65 years old, 97% of people who carry this genetic mutation will develop tumors and other conditions that VHL causes. Surgery is the most common treatment for conditions that von Hippel-Landau disease may cause.

What cancers are associated with von Hippel-Landau disease?

Having this condition increases the chance you’ll have one or more of the following kinds of cancer:

Clear cell renal carcinoma (ccRCC): This is the most common form of renal cell carcinoma (kidney cancer). Experts estimate 25% to 60% of people with VHL disease have this cancer. 

Pancreatic neuroendocrine tumors (pancreatic NETs): These are rare tumors that start in your pancreas’ endocrine cells. Between 9% and 17% of people with von Hipple-Landau disease develop pancreatic NETS.

Pheochromocytoma: This is a rare but treatable tumor that starts in your adrenal gland. Pheochromocytomas start as noncancerous tumors but can be cancerous. Between 10% and 20% of people with von Hippel-Lindau disease have pheochromocytomas.

Broad ligament cystadenomas: This condition affects 10% of females who have von Hippel-Lindau disease. A broad ligament cystadenoma is a tumor that starts near your fallopian tubes.

What noncancerous tumors are associated with VHL?

Hemangioblastomas are the most common noncancerous tumor that may happen if you have von Hippel-Landau disease. A hemangioblastoma is a noncancerous tumor that grows in the blood vessels in your brain, spinal cord or retina.

These tumors don’t spread from where they started (metastasize), but they can grow large enough to affect nearby tissue and cause serious health issues. Hemangioblastomas associated with von Hippel-Landau disease are:

Retinal hemangioblastoma: This is a type of eye tumor that can cause vision loss. Research shows that 60% of people with von Hippel-Lindau syndrome develop retinal hemangioblastoma.

Brain stem and cerebellar hemangioblastomas: These are brain tumors that may affect your balance and cause other issues. They may affect 13% to 72% of people with von Hippel Landau disease.

Spinal cord hemangioblastoma: Between 13% and 50% of people with VHL have this type of hemangioblastoma.

Having von Hippel-Landau disease may also increase your risk of developing the following noncancerous tumors and cysts:

Epididymal cystadenomas: These tumors affect males. They develop in your epididymis, the small tube-like structure near your testicles that stores sperm. Between 25% and 60% of males with von Hippel Lindau disease develop this type of tumor.

Endolymphatic sac tumors (ELST): This is a very rare tumor that may develop in your inner ear if you have VHL. Between 10% to 25% of people with von Hippel-Lindau disease have this condition.

Cysts: Cysts are growths filled with fluid. People with VHL may have cysts on or in their kidneys and pancreas.

Symptoms

This condition causes tumors throughout your body, which means you may have several different symptoms depending on where tumors develop and the tumors’ sizes. Symptoms may include:

Headaches.

Hearing loss or tinnitus.

High blood pressure.

Loss of balance.

Loss of muscle strength or coordination.

Vision issues.

Vomiting.

Causes

von Hippel-Lindau syndrome is an inherited disorder that may happen when one of your biological parents passes on an abnormal version of the VHL gene, a tumor suppressor gene that manages cell growth. 

These genes make special proteins that put the brakes on cell growth that may cause cancer. When tumor suppressor genes mutate (change), it’s as if they switch from pressing on the brakes to hitting the gas pedal, suddenly putting cell growth into overdrive.

This disorder follows an autosomal dominant inheritance pattern. That means if you inherit an abnormal VHL gene from one of your biological parents, there’s a 50% chance that you’ll have von Hippel-Lindau disease. That being said, research shows up to 10% of people with VHL don’t have a family history of the disorder. 

Diagnosis

Healthcare providers may suspect you have VHL if you have symptoms of one of the conditions that von Hippel-Lindau disease may cause, like a hemangioblastoma or clear cell renal carcinoma. But genetic testing is the only way to confirm that you have the condition. If anyone in your family has von Hippel-Lindau disease, ask your healthcare provider if genetic testing is right for you. 

Treatment

Treatments vary depending on the type of tumor or cyst that VHL causes. Your healthcare provider will explain your treatment options. Common treatments are:

Surgery to remove tumors.

Chemotherapy.

Radiation therapy.

Targeted therapy, including peptide receptor radionuclide therapy (PPRT) and tyrosine kinase inhibitors (TKI).

Immunotherapy.

Hormone therapy.

Type of Doctor Department :  A neurosurgeons (brain/spine), urologists (kidneys), ophthalmologists (retina), and endocrinologists (adrenal glands)

Comments

Post a Comment

Popular posts from this blog

Charge Syndrome

Overview CHARGE syndrome is a recognizable genetic syndrome with known pattern of features. It is an extremely complex syndrome, involving extensive medical and physical difficulties that differ from child to child. CHARGE syndrome is correlated with genetic mutation to CHD7 and the prevalence of CHARGE syndrome is 1:10,000-1:15,000 live births. Babies with CHARGE syndrome are often born with life-threatening birth defects. They spend many months in the hospital and undergo many surgeries and other treatments. Swallowing and breathing problems make life difficult even when they come home. Most have hearing two little girls sitting on a carpet, one girl has a trach and is biting her finger.loss, vision loss, and balance problems that delay their development and communication. Despite these seemingly insurmountable obstacles, children with CHARGE syndrome often far surpass their medical, physical, educational, and social expectations. One of the hidden features of CHARGE syndrome is the ...
7 comments
Read more

Dehydration Due to Diarrheal Diseases

Overview Dehydration occurs when you use or lose more fluid than you take in, and your body doesn't have enough water and other fluids to carry out its normal functions. If you don't replace lost fluids, you will get dehydrated. Anyone may become dehydrated, but the condition is especially dangerous for young children and older adults. The most common cause of dehydration in young children is severe diarrhea and vomiting. Older adults naturally have a lower volume of water in their bodies, and may have conditions or take medications that increase the risk of dehydration. This means that even minor illnesses, such as infections affecting the lungs or bladder, can result in dehydration in older adults. Dehydration also can occur in any age group if you don't drink enough water during hot weather — especially if you are exercising vigorously. You can usually reverse mild to moderate dehydration by drinking more fluids, but severe dehydration needs immediate medical treatment. ...
Post a Comment
Read more

Vogt-Koyanagi-Harada (VKH) Disease

  Vogt-Koyanagi-Harada (VKH) Disease Disease Overview Vogt-Koyanagi-Harada disease is a rare disorder of unknown origin that affects many body systems, including as the eyes, ears, skin, and the covering of the brain and spinal cord (the meninges). The most noticeable symptom is a rapid loss of vision. There may also be neurological signs such as severe headache, vertigo, nausea, and drowsiness. Loss of hearing, and loss of hair (alopecia) and skin color may occur along, with whitening (loss of pigmentation) of the hair and eyelashes (poliosis). Signs & Symptoms Vogt-Koyanagi-Harada disease is initially characterized by headaches, very deep pain in the eyes, dizziness (vertigo), and nausea. These symptoms are usually followed in a few weeks by eye inflammation (uveitis) and blurring of vision. This may occur in both eyes at the same time or in one eye first and, a few days later, in the other. The retina may detach and hearing loss may become apparent. The chronic stage follows...
Post a Comment
Read more