Von Hippel-Lindau Syndrome

Description

Von Hippel-Lindau syndromeVon Hippel-Lindau syndrome is rare, genetic disease which results from a mutation in the von Hippel–Lindau tumor suppressorgene on chromosome 3p25.3 and associated with hemangioblastomas, which are blood vessel tumors of the brain, spinal cord, and eye. The tumors can be cancerous or benign. They can grow in brain and spinal cord, kidneys, pancreas and, in men, their genital tract.

A quarter of patients develop renal carcinoma, frequently multiple primary. The symptoms of the disease become apparent in the 2nd decade of life – one of the first detected bleeding in the eyeball or in the posterior cranial fossa with signs of intracranial hypertension and cerebellar disorders.

The prevalence of VHL is 1 from 36,000 newborns. In people with a mutation, the disease develops till 65 years old with a probability of 95%.

There are different lesions of Von Hippel-Lindau syndrome which include:

  • renal lesions (renal cell cardcinoma, renal cysts, renal ongiomyolipoma)
  • pheochromocytoma
  • pancreatic lesions (pancreatic cysts, pancreatic serous cystadenoma, pancreatic islet cell tumours, pancreatic adenocarcinoma)
  • liver cysts
  • papillary cystadenoma(s) of the epididymis
  • paraganglioma
  • CNS haemangioblastomas
  • choroid plexus papilloma (CPP)
  • retinal haemangioblastomas
  • endolymphatic sac tumours (ELST)

Signs and symptoms of Von Hippel-Lindau syndrome

Symptoms of VHL vary and depend on the size and location of the tumors. They include:

  • headaches
  • problems with balance and walking
  • dizziness
  • vision problems
  • high blood pressure
  • weakness of the limbs

Conditions associated with Von Hippel-Lindau syndrome are angiomatosis, hemangioblastomas, pheochromocytoma, renal cell carcinoma, pancreatic cysts, endolymphatic sac tumor etc. The most common are angimatosis which occurs in 37.2% of patients presenting with VHL disease. Angiomas are benign tumors occurring in the brain, spinal cord and retina (back of the eye) so loss of vision is very common symptom. Cysts may grow around hemangioblastomas and other VHL tumors. Cysts are fluid-filled sacs which may exert pressure or create blockages that can cause symptoms.

Additional symptoms of VHL according to affected organ are strokes, heart attacks, and cardiovascular disease.

Causes of Von Hippel-Lindau syndrome

VHL syndrome is genetic disorder and caused by an alteration in one of the two copies of a gene. It means that this disorder can be passed from generation to generation in a family. Each child receives one gene of each pair from each parent. If one of parents has an alteration in dominant gene, it’s 50/50 chance that child will inherit it.

Treatment 

It is very important to diagnose Von Hippel-Lindau syndrome early. Usual treatment includes surgery or radiation therapy. It aims to treat growths while they are small and before they will do permanent damage. There are no universal treatment recommendations; treatment options can only be determined by careful evaluation of the individual patient’s total situation—symptoms, test results, imaging studies, and general physical condition.