Taiwanese researchers pinpoint genetic marker for SJS

January 14th, 2009 by Jennifer Walker-Journey

The serious adverse reaction to medication known as Stevens Johnson Syndrome, or , is rare in the U.S. and most countries, occurring in about one person per million each year. However, doctors at Chang Gung Memorial Hospital in Taipei, Taiwan, have seen as many as 40 to 50 cases of in only a year. “Sometimes we see two or three in a single week,” says Ghung Wen-Hung, a researcher at Chang Gung, who was quoted in the Taipei Times.

Researchers like Wen-Hung are asking why.

is a life-threatening hypersensitivity condition that causes rashes to form over the body. The rashes blister over, causing the skin to peel off in sheets. also can affect the mucus membranes, causing blisters to form in the mouth and eyes. Death can result in about 10 percent of patients with . If it progresses to its most severe form, toxic epidermal necrolysis, (TEN) the death rate soars to 40 to 50 percent. /TEN is linked to more than 200 medications, most commonly ibuprofen, and anti-seizure medication.

A group of Chang Gung researchers were aware that the anticonvulsant carbamazepine was linked to many cases of , but through its own study using Taiwanese patients, researchers discovered a possible connection – “a high correlation between hypersensitivity to carbamazepine and a single allele, human leukocyte antigen B1502,” according to the report. As many as 80 percent of Taiwanese carry the allele. The discovery lead to an FDA warning in the U.S. of the increased risk of /TEN for patients of Asian ancestry with the B1502 allele who take carbamazepine.

Since the discovery, researchers began focusing on developing a test to determine whether a patient has the B1502 allele, and lead researcher Wen-Hung turned his attention on a treatment to halt the progression of /TEN.

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