VHL Manifestations

VHL is considered to be a highly penetrant disease, meaning that most people with VHL will experience one or more tumors over their lifetime. Nearly everyone with VHL will develop a tumor by age 65.

Even benign (noncancerous) VHL tumors and cysts can cause medical problems. As they grow in size, they can cause increased pressure on the organs and tissues around them. This pressure can ultimately lead to symptoms, such as severe pain.

The most common manifestation of VHL is hemangioblastomas. These are blood vessel–rich tumors occurring in the brain, spinal cord and retina. Hemangioblastomas are benign but can cause severe symptoms.

VHL has a characteristic spectrum of both benign (noncancerous) and malignant (cancerous) tumors, including:

  • Central nervous system (cerebellar, brainstem and spinal) hemangioblastoma
    • Hemangioblastomas are blood vessel–rich benign tumors.
    • Symptoms may include back pain, headaches, numbness, dizziness, bowel or bladder incontinence, increased reflexes, incoordination, and weakness or pain in the arms and legs.
  • Retinal hemangioblastoma (or angioma)
    • Hemangioblastomas are blood vessel–rich benign tumors.
    • Approximately 60% of people with VHL get a retinal hemangioblastoma or angioma.
    • Symptoms may include floaters, retinal detachment, decreased vision and possible blindness.
  • Endolymphatic sac tumor
    • Endolymphatic sac tumors are benign tumors that develop within the inner ear.
    • Approximately 15% of people with VHL get an endolymphatic sac tumor.
    • Symptoms may include tinnitus, vertigo, dizziness, fullness in an ear, facial weakness and gradual hearing loss.
  • Pancreatic cysts and benign and cancerous tumors
    • Approximately 75% of people with VHL develop pancreatic cysts.
    • Approximately 12% of people with VHL develop pancreatic tumors.
      • The most common are benign serous microcystic adenomas.
      • Pancreatic neuroendocrine tumors (pNETs) are rare tumors that can be either benign or malignant.
    • Symptoms may include pancreatitis (from blockage of bile ducts), diabetes (from blockage of insulin delivery), digestion irritability, malabsorption and jaundice.
  • Pheochromocytoma (PCC) and paraganglioma (PGL)
    • PCC is a type of tumor that arises from the adrenal gland, while PGL can be found in the abdomen, pelvis, chest and neck. Both start out benign but can become malignant.
    • Less than 7% of people with VHL get a PCC or PGL.
    • Symptoms may include high blood pressure, excessive sweating, rapid heat rate, heart palpitations, and excessive anxiety. It can feel like your “flight-or-fight” response is constantly activated.
  • Kidney cysts and renal cell carcinoma (RCC)
    • Most people with VHL develop kidney cysts.
    • RCC affects 30% to 40% of individuals with VHL.
    • Symptoms may include lower back pain on one side, blood in urine (hematuria), fatigue and a lump on the lower back.
  • Cystadenomas (males and females)
    • A benign tumor of the epididymis affects up to 50% of men with VHL.
    • Women might get a benign tumor of the broad ligament, the tissue that covers the uterus, fallopian tubes and ovaries.
    • Symptoms may include discomfort or pain, rupture, hemorrhage and torsion.

The initial manifestations of VHL can occur at any time from early childhood through adulthood, and may differ from person to person. For some people, VHL causes very few medical problems, while others may have more serious complications. It is important to know that frequent and regular surveillance can help detect tumors early while they are easier to treat and before they cause serious problems.