von Hippel-Lindau disease

Von Hippel-Lindau disease is a congenital disorder associated with multiple tumors in various organs. VHL-associated tumors include hemangioblastomas (tumors arising from a network of capillaries in the brain, spinal cord, and retina). Retinal tumors, such as retinal angiomas, can lead to complete loss of vision if untreated. Patients with VHL also have an increased risk of developing clear cell renal carcinoma, pancreatic neuroendocrine tumors (pNET), pheochromocytomas, and adrenal tumors.

It is thus a multisystem tumor disease with autosomal dominant inheritance, characterized by a predisposition to both malignant and benign tumors. The disorder is caused by a specific mutation in the tumor suppressor gene VHL, which normally prevents tumor formation. Von Hippel-Lindau disease is most commonly diagnosed in patients around 40 years of age. Many of these patients also present with cysts (fluid-filled cavities) in the kidneys, liver, pancreas, and cystadenomas, such as in testicular tissue.

Diagnosis:
If a physician suspects a VHL mutation, a definitive diagnosis is established through genetic molecular testing. Suspicion arises in patients with multiple hemangioblastomas of the brain and spinal cord, retinal hemangioblastomas, or a combination of one hemangioblastoma with renal carcinoma, pancreatic cysts, endolymphatic sac cysts, epididymal cysts, or other combinations of these benign or malignant tumors.

Treatment:
Therapy is guided by treatment protocols for each tumor individually. Management should include lifelong monitoring by an ophthalmologist, brain MRI, abdominal CT, and laboratory tests. At-risk relatives should undergo screening from childhood to prevent late diagnosis and the development of tumor metastases. Renal carcinoma is the most common cause of death, followed by brain hemangioblastomas.

• Renal carcinoma
• The carcinoma is often highly vascularized
• Tumors are usually multiple
• Sometimes the tumor occurs as complicated cysts
• Very often affects both kidneys
• Progressively develops into metastatic spread
• Metastatic carcinoma is the cause of death in up to 50% of patients
• Nervous tissue tumors, especially in the brain and spinal cord
• Impaired consciousness
• Memory disorders
• Sometimes coordination problems
• Usually also present: adrenal tumor (pheochromocytoma)
• Pancreatic tumors
• Digestive difficulties
• Bloating
• Diarrhea, vomiting
• Constipation
• Eye tumors
• Visual field disturbances
• Progressive loss of vision, potentially leading to blindness