Von Hippel-Lindau syndrome

From WikiMD.org
Jump to navigation Jump to search

Von Hippel-Lindau syndrome (pronunciation: von HIP-el-LIN-dow) is a rare, genetic multi-system disorder characterized by the abnormal growth of tumors in certain parts of the body. The specific symptoms and severity of VHL can vary greatly from one person to another.

Etymology

The syndrome is named after the two German ophthalmologists, Eugen von Hippel and Arvid Lindau, who first described the disease in the early 20th century.

Symptoms

The most common tumors associated with VHL syndrome are hemangioblastomas, which are blood vessel tumors of the brain, spinal cord, and retina. Other types of tumors that can occur in VHL syndrome include pheochromocytomas, renal cell carcinoma, and endolymphatic sac tumors.

Causes

Von Hippel-Lindau syndrome is caused by mutations in the VHL gene. This gene provides instructions for making a protein that acts as a tumor suppressor, which means it keeps cells from growing and dividing too rapidly or in an uncontrolled way.

Diagnosis

Diagnosis of VHL syndrome is based on clinical criteria involving a combination of medical history, physical examination, and imaging studies. Genetic testing can confirm the diagnosis.

Treatment

Treatment for VHL syndrome is focused on managing symptoms and preventing complications. This may involve surgery, radiation therapy, or medication, depending on the type and location of the tumors.

Related Terms

External links

Esculaap.svg

This WikiMD dictionary article is a stub. You can help make it a full article.


Languages: - East Asian 中文, 日本, 한국어, South Asian हिन्दी, Urdu, বাংলা, తెలుగు, தமிழ், ಕನ್ನಡ,
Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, European español, Deutsch, français, русский, português do Brasil, Italian, polski