Weill Cornell Researchers Find Rare Form of Gene May Be Cause of Vulvar Vestibulitis

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New Finding May One Day Provide Alternative to Surgery



February 14, 2000 (New York, NY) — The cause of Vulvar Vestibulitis Syndrome (VVS) has long been a mystery. Now, two Weill Cornell Medical College researchers may have discovered the root cause behind the chronic inflammation and pain that plagues women with VVS. In results published in this week's American Journal of Obstetrics & Gynecology, Dr. Steve Witkin and Dr. William Ledger of Weill Cornell's Department of Obstetrics & Gynecology have shown that a rare form of a gene, called the 2,2 allelle of the Interleukin-1 Receptor Antagonist Gene, provides the first physical explanation of VVS and holds the first promise of a cure for the disease.

Background & Major Points of Vulvar Vestibulitis Article



1. Vulvar vestibulitis is a syndrome characterized by an inability of a woman to have sexual intercourse or insert a tampon into the vagina without considerable pain. The pain is due to an inflammation of the four small vestibular glands, two on each side of the vagina, that secrete lubricating fluid. Physical examination in most cases is unremarkable, so that the disease is very hard to diagnose.

2. It has been estimated that as many as 15% of women seen by a general gynecologist have this problem to some extent.

3. The cause is unknown and there is no uniformly successful treatment. In many cases, surgery is employed to remove the vestibular glands and the inflammed vulvar tissue.

4. Many women see a multitude of physicians as well as psychiatrists seeking an explanation for their symptoms. Discovery of a cause for their disorder would offer considerable physical and emotional comfort to many patients.

5. The chronic inflammation associated with VVS is induced by the production by white blood cells of the chemical Interleukin-1. The activity of Interleukin-1 is inhibited by another chemical produced by the same cells known as the Interleukin-1 Receptor Antagonist. The relative production of both of these chemicals keeps the inflammatory response in balance.

6. The gene coding for Interleukin-1 Receptor Antagonist is polymorphic, i.e., there are small differences between individuals in the exact genetic sequence of this gene. A rare form of this gene, called the 2,2 allele, is present in less than 10% of the population, and is associated with more severe and more chronic inflammation. This is due to an imbalance between Interleukin-1 and Interleukin-1 Receptor Antagonist production.

7. In their latest study, Drs. Witkin and Ledger now report that more than 50% of women with vulvar vestibulitis have the 2,2 allele of the Interleukin-1 Receptor Antagonist gene. This suggests that their symptoms are due to an immune imbalance in the regulation of inflammation. It provides, for the first time, a physical explanation for their problem, and suggests further avenues of research to end their suffering.
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