Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are associated with widespread epidermal necrosis, with the clinical presentation consisting of widespread blisters and bullae and involvement of mucous membranes, including the eyes, mouth, lungs, GI tract, liver, kidney, urogenital and skin. The mortality of SJS/TEN is up to 50% and both diseases cause long-term physical and mental health injuries, and permanent disabilities which are considerable and understudied.
Because of high mortality/morbidity SJS/TEN are the most important drug-related cutaneous eruption known to drug safety with respect to assessing risk vs. benefits of prescription and OTC drugs. While SJS and TEN are infrequent, these diseases may kill or severely disable previously healthy people. Just a few cases of SJS and TEN have prompted the withdrawal of newly released drugs from the market.
SJS and TEN have a significant impact on public health because of high mortality, frequently lasting disability. It has been reported that the acute hospitalization costs associated with the treatment of SJS and TEN patients in the United States alone exceeds $125 million per year – five times higher than the cost associated with any other type of hospital admission.
New scientific advances in genetic testing for the identification of at-risk populations and SJS/TEN and coupled with promising discoveries have associated variations in class I specific major histocompatibility complex (MHC) genetic alleles such as HLA-B*15:02-carbamezepine, phenytoin and lamotrigine (aromatic anti-epileptic drugs), and HLA-B*58:01 which is associated with allopurinol-induced SJS/TEN.
Common causes of SJS/TEN in the United States include sulfamethoxazole-trimethoprim, allopurinol, and aromatic anticonvulsants such as lamotrigine, phenytoin, and carbamazepine, Ibuprofen, Vancomycin, and fluoroquinolone antibiotics where the prevalent genetic associations in U.S. populations have yet to be more clearly defined which has stalled preventive efforts and implementation.
The rarity of SJS/TEN and the lack of access to large cohorts of survivors has impaired the ability to define genetic risk factors and long-term morbidity associated with the most common drugs causing SJS and TEN. We are utilizing a registry developed by the SJS Research Consortium to develop data and a DNA biobank of phenotype adjudicated SJS/TEN survivors.
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