Know More About Von Hippel–Lindau Disease, and How we Can Fix It

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Know More About Von Hippel–Lindau Disease, and How we Can Fix It:





Von Hippel–Lindau disease (VHL), is a rare genetic disorder with multisystem involvement. It is described by visceral cysts and benign tumors with potential for consequent malignant transformation. It is also known as familial cerebello retinal angiomatosis. It is a type of phakomatosis that results from a mutation in the von Hippel–Lindau tumor suppressor gene on chromosome 3p25.3. The disease is similarly categorized by an increased risk of developing the following types of tumors:
·        Hemangioblastomas of the central nervous system - Benign (noncancerous) tumors made up of nests of blood vessels in the brain and spine
·        Hemangioblastomas of the retina
·        Pheochromocytomas – A neuroendocrine tumor, typically benevolent, inside or outside of the adrenal gland
·        Renal cell carcinoma - Cancerous tumor of the kidney that arises in about 70 percent of individuals with VHL
VHL may likewise affect the pancreas, inner ear, and reproductive organs (in men and women).

SYMPTOMS

Side effects of VHL change among individuals and rely upon the size and location of the tumors. Symptoms may incorporate headaches, issues with balance and walking, dizziness, weakness of the limbs, vision problems, deafness in one ear, and hypertension. Individuals with VHL are likewise at a higher risk than normal for particular types of cancer, especially kidney cancer.
Hemangioblastomas that grow in the brain and spinal cord can cause headaches, vomiting, weakness, and a loss of muscle coordination (ataxia). Hemangioblastomas can likewise happen in the light-sensitive tissue that lines the back of the eye (the retina). These tumors, which are likewise called retinal angiomas, may cause vision injury.
Pheochromocytomas influence the adrenal glands, which are small hormone-producing organs situated on top of each kidney. These tumors frequently cause no manifestations, however in some cases they can create an abundance of hormones that cause dangerously hypertension.

DIAGNOSIS

Following tests that may be used to establish a clinical diagnosis include:
  • ·        MRI of the brain and spinal cord
  • ·        fundoscopy
  • ·        ultrasound examination or MRI of the abdomen
  • ·        blood and urinary catecholamine metabolites.


TREATMENT

Treatment for Von Hippel-Lindau (VHL) disease relies upon the location and size of tumors. As a rule, the goal is to treat developments when they cause symptoms, yet are still little so they don't cause permanent injury. Treatment typically includes careful expulsion of tumors. Radiation therapy might be utilized in some cases. All individuals with VHL disease should be carefully followed by a physician or medical group acquainted with the disorder.

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