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HLA-B*5801 Testing for Allopurinol Severe Cutaneous Adverse Reactions

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June 2013

Hyperuricemia-related diseases such as gout, Lesch-Nyham syndrome, and urate kidney stones are commonly treated with allopurinol. However, with widespread use of the drug has come the recognition of allopurinol hypersensitivity syndrome. This syndrome, which includes skin reactions such as Stevens-Johnson syndrome and toxic epidermal necrolysis, eosinophilia, vasculitis, and other reactions, has a reported mortality rate of 20% to 25%. The presence of an HLA-B allele, specifically HLA-B*5801, has been associated with the hypersensitivity cutaneous reactions. This allele is found in varying frequencies among ethnicities but in all studies, regardless of ethnicity, the presence of and the allele greatly increases the risk of severe skin reactions in response to the use of allopurinol.  Guidelines have been published on the use of HLA-B*5801 testing in patients getting allopurinol, but these guidelines vary. Some suggest testing all patients who are to be administered allopurinol, while others specifically target high-risk populations for testing. Two new tests, one for blood specimens and another for saliva, offer rapid detection of the HLA-B*5801. In this presentation, Dr. Black reviews the current knowledge on allopurinol severe cutaneous adverse reactions, recommendations on testing, and the use of these 2 new tests.


  • John Logan Black, MD


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