What Is von Hippel-Lindau Syndrome?

Medically Reviewed on 9/27/2022
von Hippel-Lindau Syndrome
Treatment for von Hippel-Lindau syndrome largely depends on several factors, such as your age and the size of the tumors.

Von Hippel-Lindau (VHL) syndrome is a rare genetic disorder that affects 1 in 36,000 individuals globally. It is characterized by the formation of tumors and cysts (fluid-filled masses) in certain parts of the body such as the:

  • Brain
  • Spinal cord
  • Eyes
  • Inner ear
  • Adrenal glands
  • Pancreas
  • Kidney
  • Reproductive tract 

VHL syndrome is also called VHL disease. Some other names of this condition include:

  • Hippel-Lindau disease
  • Angiomatosis retinae
  • Cerebelloretinal angiomatosis, familial

Generally, tumors seen in VHL syndrome are benign (noncancerous) although some may be malignant (cancerous). Furthermore, the affected person has a high risk of certain types of cancer, particularly those of the kidney, adrenals, and pancreas.

What are the symptoms of von Hippel-Lindau disease?

Signs and symptoms of von Hippel-Lindau (VHL) disease may vary from person to person. Because the disease affects different parts of the body, the presenting symptoms may vary even in the affected people belonging to the same family. Moreover, the age at which symptoms first appear (age of onset) differs among different individuals. 

Some of the main presenting features of VHL syndrome include:

  • Hemangioblastoma: Benign (noncancerous) tumors that occur in the brain, spinal cord, and retina (eyes). The tumor grows from the lining of the blood vessels and is often contained within a cyst (fluid-filled sac). Symptoms appear due to the pressure of the cyst or tumor on surrounding structures.
    • Depending on the site, hemangioblastoma symptoms may include:
  • Pheochromocytomas: Hormone-producing tumors of the adrenal glands present above the kidneys.
  • Pancreatic tumors:
    • It may be benign or cancerous, causing symptoms such as:
      • Bloating
      • Indigestions
      • Altered bowel movements
  • Clear cell carcinoma of the kidney: Cancerous tumors that may not cause symptoms in the early stages. They tend to spread to other areas in the body (metastasis).
    • Symptoms may include:
      • Loss of weight and appetite
      • Blood in urine 
      • Reduced urine output
      • Fluid retention
      • Symptoms related to the site of spread
  • Endolymphatic sac tumor: A type of benign tumor of the ear.

There may be other tumors such as tumors in the lungs and liver, which are generally benign and do not cause any problems. Tumors in the reproductive tract may cause infertility in both men and women.

How is VHL syndrome diagnosed?

The definitive diagnosis of von Hippel-Lindau (VHL) syndrome can be only done through genetic testing to identify the faulty VHL gene. This involves collecting the blood sample as in other blood tests and performing a pre-test and post-test counseling by a geneticist and lab examinations to diagnose the mutated gene.

  • Your doctor may take your detailed medical history to know whether someone in your family has been diagnosed with this disorder or has similar symptoms.
  • They will also perform your physical examination to know how the disease has affected or may affect you. 
  • They may perform blood tests to look for various disease markers including kidney and liver function.
  • Imaging tests such as an ultrasound, a CT scan, and MRI may be performed to identify the various tumors associated with VHL syndrome.

Path to the treatment of VHL syndrome

The treatment of von Hippel-Lindau (VHL) syndrome is highly individualized and is based on:

  • Your age
  • Results of investigations including imaging studies
  • Symptoms 
  • Type, size, and site of lesions
  • General health
  • Treatment preferences

The disease cannot be cured, but proper treatment and regular follow-up will help prevent or minimize the complications and improve your quality of life. Surgery or radiation therapy is generally performed to remove the tumors before they cause any serious symptoms. 

  • Brain and spinal cord hemangioblastomas: May be surgically removed depending on their size and site. Asymptomatic and small tumors may be treated with stereotactic radiosurgery (which uses focused radiation beams to treat tumors). 
  • Retinal hemangioblastomas: Small, peripheral tumors are usually successfully treated using laser surgery, whereas larger ones may require cryotherapy
  • Kidney cancer: Tumor may be surgically removed preserving as much normal tissue as possible. Cryotherapy or radiofrequency ablation may be tried in some cases.
  • Pheochromocytomas: After controlling the hormone levels with medications, surgery (open or laparoscopic) may be performed to remove the adrenal glands.
  • Endolymphatic sac tumors: Tumors are surgically removed to prevent deterioration in hearing and balance function of the ears. There may be multiple tumors seen while performing surgery that may have been missed by imaging studies.

Various investigational therapies and clinical trials are underway to develop better and newer treatment options for people with VHL syndrome. Ask your doctor if you should consider enrolling in them.

Questions to ask your doctor about VHL syndrome

  • How would I know if I carry a defective von Hippel-Lindau gene?
  • What are the treatment options available for me?
  • Will this condition affect my child?
  • Are there any clinical trials I should go for?
  • What are the symptoms to watch out for?
  • How often should I come for follow-up visits?
  • Will this condition affect my work opportunities?
  • Should my family members be screened as well?

How this condition may change over time

With timely diagnosis and treatment, most people with von Hippel-Lindau (VHL) syndrome can lead a fruitful life with an average lifespan of 50 years.

Adequate treatment with timely follow-up will help prevent serious complications such as vision loss and brain damage. Moreover, it helps detect cancer, such as that of the kidney and pancreas, in its early stages when treatment is possible and successful.

As VHL cannot be cured, life-long treatment and follow-up are necessary.

When to contact your doctor

Tips for living with von Hippel-Lindau syndrome

Although von Hippel-Lindau syndrome may make you prone to various health issues, following these tips may help you cope with the disease while leading a satisfying life:

  • Take your medications as prescribed by your doctor
  • Go for regular follow-ups
  • Do not hesitate to discuss any concerning symptoms with your doctor
  • Practice relaxation techniques to calm your mind and body
  • Eat a healthy diet and regular exercise as discussed with your provider
  • Avoid smoking, excessive alcohol, or any recreational drugs
  • Maintain a healthy weight
  • Ensure that you get at least eight hours of restful sleep each night
  • Seek the help of a counselor or mental health expert if things seem overwhelming
  • Join support groups to learn from other people with the disease
Medically Reviewed on 9/27/2022
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