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Von Hippel Lindau Disease - Symptoms and Treatment

Von Hippel Lindau Disease is an inherited disorder of chromosome 3 causes brain, eye, and kidney tumors which are found in both males and females of all ethnic backgrounds are affected by von Hippel-Lindau disease.Symptoms of VHL vary among patients and depend on the size and location of the tumors.The greatest risk of von Hippel-Lindau is the development of kidney cancer.Features of VHL are:

  • Angiomatosis - little knots of capillaries in various organs.
  • Hemangioblastomas - tumors of the central nervous system (CNS, especially the cerebellum ).
  • Pheochromocytoma - tumors of the adrenal medulla that often produce catecholamines
  • Renal cell carcinoma - in some forms

Symptoms of Von Hippel Lindau Disease

Different types of tumors may develop in von Hippel-Lindau disease:

  • Eye hemangiomas
  • Cerebellum hemangiomas
  • Headaches
  • Balance problems
  • Walking problems
  • Dizziness
  • Limb weakness
  • Vision problems
  • High blood pressure
  • Retinal Hemangioblastomas
  • Brain Hemangioblastomas
  • Kidney Cysts / Kidney Cancer
  • Pheochromocytomas (tumors of the adrenal gland ) are most common in patients who do not develop brain or renal growths.

Causes of Von Hippel Lindau Disease

The disease is caused by mutations of the Von Hippel-Lindau tumor suppressor (VHL) gene on the third chromosome.A far less common type of kidney cancer, transitional cell carcinoma, develops in the tissue that forms the tubes connecting the kidneys to the bladder. researchers have identified certain factors that appear to increase the risk of developing both renal and transitional cell kidney cancers. The causes are include are :

  • Renal cysts
  • Cerebellar syndrome
  • Intracranial space-occupying lesion
  • Phakomatosis
  • Retinal pathology
  • Hemangioma
  • Pancreatic cyst

Treatment of Von Hippel Lindau Disease

Regular clinical follow-up of patients and gene-carriers is imperative in order to detect manifestations early and to avoid complications

  • Treatment of symptomatic CNS hemangioblastoma remains mainly neurosurgical, often in emergency, but stereotactic radiosurgery is emerging as an alternative therapeutic procedure in patients with multifocal solid hemangioblas
  • Retinal hemangioblastoma are treated by cryotherapy or laser depending on the location, size and number of tumours.
  • Pheochromocytomas have to be surgically removed, preferentially with the use of laparoscopy. When possible, partial adrenalectomy appears to be a safe method of preserving adrenocortical function and quality of life.
  • Pancreatic neuroendocrine tumours require surgical removal at a 2-3 cm size in order to avoid metastatic dissemination.
  • Pancreatic cysts and serous cystadenomas do not require resection but sometimes a percutaneous drainage or endoscopic implantation
  • Medical perspectives: several clinical studies are on-going with specific drugs that block VEGF in the hope of causing stabilisation or recession of CNS and retinal hemangioblastomas.



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