About hippel-lindau syndrome (hls)

What is hippel-lindau syndrome (hls)?

Von Hippel-Lindau syndrome (VHL) is an autosomal dominant genetic disorder characterized by the abnormal growth of blood vessels in certain parts of the body (angiomatosis). Very small blood vessels (capillaries) "knot" together to form benign growths known as angiomas or hemangioblastomas. These may develop in the retinas of the eyes (retinal hemangioblastomas) or in the brain or spinal cord, or in the inner ear (endolymphatic sac tumors). Vascular tumors may also occur in the kidneys (renal cell carcinoma), pancreas (cysts, microcystic cystadenomas, or pancreatic neuroendocrine tumors) and/or adrenal glands (pheochromocytoma). The symptoms of VHL vary greatly and depend on the size and location of the growths.

What are the symptoms for hippel-lindau syndrome (hls)?

These symptoms may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom.

Abnormality of the eye, adrenal pheochromocytoma, cerebellar hemangioblastoma, hypertension, renal cell carcinoma, retinal capillary hemangioma, abdominal pain, abnormal left ventricular function, anxiety, arrhythmia, back pain, and cardiomyopathy.
This disease might cause these symptoms:

What are the causes for hippel-lindau syndrome (hls)?

Mutations in the VHL gene cause von Hippel-Lindau syndrome. The VHL gene is a tumor suppressor gene, which means it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in this gene prevent the production of the VHL protein or lead to the production of an abnormal version of the protein. An altered or missing VHL protein cannot effectively regulate cell survival and division. As a result, cells grow and divide uncontrollably to form the tumors and cysts that are characteristic of von Hippel-Lindau syndrome.

What are the treatments for hippel-lindau syndrome (hls)?

The treatment for Hippel-Lindau syndrome (HLS) depends on where the tumors are located and how much they affect your body.

  • It's important to know that not everyone who has HLS needs treatment right away.
  • Your doctor will make recommendations based on your specific situation and overall health.
  • Treatment also depends on what symptoms are present and how severe they are.
  • Treatment options include surgery to remove tumors, chemotherapy to shrink large tumors or prevent cancer from developing, and radiation therapy to kill cancer cells.
  • Some people with HLS need only one or two treatments over the course of their lives, while others may require more intensive treatment options throughout adulthood.
  • The most common treatment for HLS is surgery to remove tumors from your eyes or kidneys.
  • To treat eye tumors, doctors often use cryotherapy (freezing), laser therapy, or photodynamic therapy (PDT).
  • For kidney tumors, doctors may recommend radiation therapy or surgery to remove them surgically.
  • In addition to treating specific symptoms as they arise, there are some lifestyle changes you can make to help manage your condition.
  • Eat a healthy diet rich in fruits and vegetables to lower your risk of developing kidney stones or high blood pressure.
  • Exercise regularly—at least 30 minutes per day—to maintain good circulation and prevent leg ulcers from forming.

What are the risk factors for hippel-lindau syndrome (hls)?

The risk factors for HLS include:

  • Family history of HLS - If your parents or other family members have been diagnosed with HLS you are at an increased risk of developing this condition. In fact, if one parent has HLS, there is a 50% chance that their child will have it as well. This can be due to genetic reasons or environmental reasons (like smoking).
  • Age - The risk increases with age. It is most common in young adults but can occur at any age.
  • Genetics - If you have a family history of HLS and your child has an autosomal dominant gene mutation then they will be more likely to develop HLS than someone without that mutation. If you have a personal history of cancer, especially skin cancer, then you may be at higher risk for developing HLS as well. It's not clear why this is the case but some researchers think it could be because of your immune system's response to the cancer cells.
  • You should make sure to talk with your doctor about any cancers or tumors you've had in the past when discussing whether or not you might need genetic testing for HLS.

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