Von Hippel-Lindau Disease Treatment in India

Von Hippel-Lindau disease (VHL) is a rare genetic disorder (affecting approximately 1 in 36,000 people) in which some blood vessels grow in an abnormal way and cause tumors in parts of the body that are rich in blood vessels.

أسباب

VHL is caused by an abnormal change in a gene on chromosome 3 which normally functions to produce a protein that acts as a suppressor of tumor growth. This gene mutation, which is passed on from parent to child, results in the uncontrolled growth of some capillaries. Capillaries are tiny blood vessels. Instead of growing normally like the branches of a tree, these blood vessels grow in a small knot. The knot forms a growth or tumor called an angioma or a hemangioblastoma, most commonly in the eye and brain. VHL is also associated with other tumors, some of which are cancerous, as well as abnormal cysts throughout the body.

عوامل الخطر

A risk factor is something that increases your chance of getting a disease or condition. The only known risk factor for VHL is having family members with VHL.

الأعراض

There is wide variation in the age at which VHL begins, the organs where problems occur, and the types and severity of symptoms. These differences occur even among members of the same family.

Although there is no consistent set of symptoms, the most common ones are:

  • Vision problems (retinal angiomatosis)
  • Headaches, signs of elevated intracranial pressure, and trouble walking (cerebellar hemangioblastoma)

Von Hippel Lindau Disease

Less common findings include:

  • Pheochromocytoma —a tumor of the adrenal gland that leads to many problems, including very high or spiking blood pressure
  • Tumors in the middle ear
  • Tumors and/or cysts in the spinal cord, lungs, liver, pancreas, and epididymis (part of the scrotum)
  • Renal cell carcinoma is the most common cause of death

Few people with VHL have all of these problems. Full-blown symptoms usually occur in adulthood, but they can begin in childhood.

التشخيص

Your doctor will ask about your symptoms and medical history and perform a physical exam. A blood test that analyzes DNA may be done to determine if you have the VHL gene. Not all families with VHL have an identifiable VHL mutation. If members of your family are positive for the gene and you are not, you do not need any further testing.

However, if other family members have been diagnosed with VHL despite a negative genetic test, or if you test positive for the VHL gene, you need to have regular medical exams and tests to uncover early signs. Even in the absence of symptoms, screening should begin in childhood and continue periodically throughout life.

Screening for VHL complications includes a physical exam with special attention to your eyes and nervous system. Tests may include:

  • MRI scan —a test that uses powerful magnets and radio waves to generate images of the inside of the body
  • CT scan —a type of x-ray that uses a computer to generate images of the inside of the body
  • Ultrasound —a test that uses high-pitched sound waves to examine the inside of the body
  • Angiography —x-rays taken after a dye is injected into the arteries allowing their interior to be seen
  • 24-hour urine test for elevated levels of hormones

Depending on the test results, the doctor will tell you what symptoms to watch for and if you need treatment.

If you have any VHL symptoms, you should consider being tested for the gene. This is advised even if you have no known family history of the disease. You could be the first person in your family to have VHL. Or you could be the first one to have it properly diagnosed since many people are not aware they have it.

العلاج

There is no known cure for VHL. Treatment depends on your specific symptoms, test results, and general health. Retinal angiomas may be treated with photocoagulation or cryocoagulation. When treatment is needed (eg for cerebellar lesions), it usually involves عملية جراحية لإزالة tumors. However, tumors are usually only removed if they are cancerous or causing other problems, such as preventing an organ from working properly. If tumors are not removed, they must be watched carefully for further growth.

الوقاية

There is no known way to prevent the VHL gene from causing its many manifestations. Therefore, genetic counseling is advised for families with known VHL or who test positive for the gene.

If you have a family history of the disease or know you have the gene, you can reduce your risk of serious health problems by:

  • Having regular screening tests to detect VHL complications early
  • Watching carefully for any suspicious symptoms and getting treatment as soon as they occur
  • Taking steps to reduce your risk of the cancers associated with VHL, for example:
    • Eating a diet high in fruits and vegetables
    • لا تدخن
    • Limiting consumption of alcohol
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