title: Genetic screening for human leukocyte antigen alleles prior to carbamazepine treatment.
abstract: We describe a 28-year-old Malaysian Australian man of Han Chinese descent with toxic epidermal necrolysis (TEN), occurring 2 weeks after commencing carbamazepine. He was subsequently found to be positive for human leukocyte antigen (HLA)-B*1502. Carbamazepine-induced Stevens-Johnson syndrome/TEN is strongly associated with the HLA-B*1502 allele, which is highly prevalent in Han Chinese, Malay, Thai and Indian populations. Prospective screening for the allele may prevent this cutaneous adverse drug reaction from occurring, but many neurologists and other medical practitioners are still unaware of the medico-legal risks of prescribing carbamazepine in susceptible populations and the availability of HLA-B*1502 testing. Performing HLA-B*1502 genotyping and avoiding carbamazepine in at-risk individuals has been proven to decrease incidences of drug-induced TEN. This test is widely available at most large pathology services in Australia, with results available within 2 weeks. The recommendation by regulatory bodies should be strengthened to ensure that the broad medical community is made more aware of this pertinent issue.
authors: Department of Dermatology, St George Hospital Sydney, Gray Street, Kogarah, NSW 2217, Australia; University of New South Wales, High Street, Kensington, NSW 2052, Australia. Electronic address: jeremytck1989@gmail.com.
authors: Jeremy C K
authors: JC
authors: Tan
authors: Department of Dermatology, St George Hospital Sydney, Gray Street, Kogarah, NSW 2217, Australia; University of New South Wales, High Street, Kensington, NSW 2052, Australia.
authors: Dedee F
authors: DF
authors: Murrell
authors: Department of Neurology, St George Hospital Sydney, Kogarah, NSW, Australia; University of New South Wales, High Street, Kensington, NSW 2052, Australia.
authors: Mark I
authors: MI
authors: Hersch
mesh_terms: D000328:Adult; D000483:Alleles; D000927:Anticonvulsants / Q000009:adverse effects*; D044466:Asian People / Q000235:genetics; D002220:Carbamazepine / Q000009:adverse effects*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D059910:HLA-B15 Antigen / Q000235:genetics*; D006801:Humans; D015994:Incidence; D008297:Male; D011446:Prospective Studies; D013262:Stevens-Johnson Syndrome / Q000235:genetics*
chemical_list: D000927:Anticonvulsants; C483536:HLA-B*15:02 antigen; D059910:HLA-B15 Antigen; D002220:Carbamazepine
keywords: Carbamazepine; Genetic screening; HLA-B*1502; Stevens–Johnson syndrome; Toxic epidermal necrolysis