Symptoms, causes and treatment of von Hippel-Lindau disease

Von Hippel-Lindau disease (VHL), also known as VHL syndrome, is a rare genetic disorder that causes tumors and cysts to form throughout the body.

VHL can be found worldwide across all races, and it has an equal chance of affecting all races. It affects 1 in 36000 People.

Because VHL leads to tumor growth, various cancers are often a complication of the disease. If you have been diagnosed with VHL, you can expect to undergo regular checkups for cancers and growths. Surgeries and radiotherapy are also common.

Noncancerous tumors can also cause unwanted complications for people with VHL, especially in your ears, eyes, brain and spinal cord. However, with careful monitoring and treatment, it is possible to reduce complications.

Is VHL considered cancer?

VHL is not the same as cancer, but it does increase the risk of cancer, particularly kidney cancer and pancreatic cancer.

This condition causes tumors and cysts to form in various organs and tissues. These tumors can be benign, which means that they do not spread throughout the body. Benign tumors are not cancerous.

VHL has the potential to cause malignant (cancerous) tumors as well, and frequently.

Is von Hippel-Lindau disease fatal?

VHL often leads to various types of cancer that can be fatal. Different types of cancers have different perspectives depending on your particular circumstances and how early the cancer is caught.

VHL benign tumors can also be fatal, especially if left untreated.

The most popular The cause of death in people with VHL is a type of slow-growing tumor in the central nervous system called hemangioblastoma. This type of tumor occurs in 13 to 72 percent of people with VHL disease.

VHL is caused by a genetic mutation or deletion. Specifically, the disorder affects the VHL gene on chromosome 3.

There is a protein in your body called hypoxia-inducible factor (HIF), which helps your body manage how cells use oxygen. Your VHL gene contains the blueprints for another protein, called the VHL protein (pVHL). The function of pVHL is to break down HIF.

When the VHL gene is properly encoded, pVHL and HIF are in equilibrium. But if you have VHL, the pVHL charts are incorrect or missing, and the protein is unable to do its job. This means that you will eventually get too much of the HIF protein, and this leads to disorganized cell growth in the form of tumors or cysts.

Is VHL hereditary?

VHL is hereditary, which means that it can be passed genetically from parents to their biological children. This is not the same thing as infection. You cannot catch VHL from someone who has it.

VHL is inherited in what is called an autosomal dominant pattern. This means that you only need to inherit the mutated gene from one parent, not both, to have VHL. It also means that if you have one of your parents with VHL, but you don’t have it yourself, you don’t have to worry about being a recessive “carrier” like some other genetic disorders.

If you have VHL, each of your biological children will have a 50 percent chance of inheriting VHL.

However, VHL does not necessarily have to be inherited. About 20 percent of all VHL diagnoses are called “de novo mutations.” This means that the genetic mutation appeared on its own without any family history of VHL.

Because VHL can cause tumors in many different parts of the body, not everyone will have the same symptoms. Symptoms will be determined by the size and location of the tumors you have.

Some common symptoms of VHL included:

Symptoms of VHL can begin at any time, but most commonly they begin between ages 18 and 30.

There is no cure for VHL today. Treatment usually focuses on monitoring growth regularly, because most growths are most effectively treated when caught early.

If you have VHL, or if you have a close family member with VHL, you can expect to have an annual neurological exam along with an evaluation of your hearing, vision and blood pressure. You’ll also likely have blood and urine tests on an annual basis.

Once you reach your teenage years, you’ll likely start having MRI scans of your brain, spine, and abdomen every one to two years.

When a growth is found, your doctor will help you determine the best treatment plan. In some cases, benign tumors may be left alone. In other cases, you can treat growths in some of the following ways:

If you have VHL and are planning to have biological children, you may consider genetic counseling.

Some people with VHL may be interested in the various clinical trials, which can be found at www.clinicaltrials.gov or vhl.org.

If you have an immediate family member with VHL, you should consider talking with a genetic counselor and getting regular checkups.

If you have the following general symptoms of a cancerous growth, make an appointment with your doctor:

  • lumps, growths, or swelling
  • Unexplained weight loss
  • unexplained pain
  • fatigue
  • changes in digestion

medical emergency

If you have been diagnosed with von Hippel-Lindau disease and develop neurological symptoms, you should seek medical attention immediately. These may include:

  • Mental state changed
  • difficulty speaking
  • Difficulty controlling muscle movements
  • Sudden visual or hearing impairment
  • Headache
  • Nausea or vomiting

VHL is diagnosed through molecular genetic testing. Your doctor may decide to pursue genetic testing if you have a family history of VHL or if you develop symptoms of the condition, such as one or more hemangioblastomas.

Early detection of VHL and the tumors it causes is crucial to your long-term outlook. When combined with appropriate treatments, many people are able to lessen the effects of the disease.

The average life expectancy for people with VHL is 67 for men and 60 for women, although these numbers were so Approaching For the general population as treatments improve.

Von Hippel-Lindau disease is a genetic disorder that is often hereditary, but can also be a de novo gene mutation. It causes a defect in VHL proteins, which then leads to disorganized cellular growth, such as tumors.

Symptoms of VHL usually appear in the late teens or twenties. Common tumor sites include the retina, inner ear, brain, spine, kidneys, and pancreas.

Early detection and treatment of tumors is key to improving your appearance, so it is important to schedule regular checkups with your doctor or specialist.

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