Von Hippel-Lindau syndrome
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
- Tumor suppressor
- Genetic mutation
- Hemangioblastoma
- Pheochromocytoma
- Renal cell carcinoma
- Endolymphatic sac tumor
External links
- Medical encyclopedia article on Von Hippel-Lindau syndrome
- Wikipedia's article - Von Hippel-Lindau syndrome
This WikiMD 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