Association between HLA-B*1502 allele and aromatic antiepileptic drugs-induced hypersensitivity syndrome reactions and the HLA-B*15:02 pharmacogenetics screening in autistic spectrum disorder

摘要

Poster presentationSome autistic children also have symptoms of depression,anxiety or obsessive-compulsive disorder (OCD).Aromatic anti-epileptic drugs (AEDs) may be used as amood-stabilizing medication to treat these symptoms,including carbamazepine (CBZ), oxcarbazepine (OXCBZ),and lamotrigene (LMG). Moreover, one in everyfour autistic spectrum disorder children have seizures,the use of AED becomes imperative in managing symptoms.Previous studies found a strong associationbetween HLA-B*1502 and carbamazepine (CBZ)-inducedcutaneous adverse reactions in Thai epileptic patients.This study aimed to identify whether HLA-B*1502 isassociated with AEDs-induced hypersensitivity syndrome(HSS) reactions and also determine the frequency ofHLA-B*15:02 in autistic spectrum disorder (ASD) inThailand. In this study, patients that developed fever andcutaneous eruptions in the presence or absence of organinvolvement with exposure to carbamazepine (CBZ),phenytoin (PHY), or lamotrigine (LTG) were enrolled.HLA-B* 15:02 was then determined in 21 patients withAED-induced HSS (6 with CBZ-HSS, 4 PHY-HSSpatients and 11 LTG-HSS patients and 292 children withASD. HLA-B genotyping using PCR-SSOP methods wasperformed. HLA-B*15:02 was observed with HSS-inducedby AEDs, which included carbamazepine (n=4; 66.7%),phenytoin (n=2; 50%), and lamotrigine (n=3; 27%). Inaddition, the allele frequencies of HLA-B*15:02 in ASDwas 14.72% (43/292). HSS-induced by CBZ, PHY andLMG is strongly, moderately and slightly associated withHLA-B*15:02 in Thai patients, respectively. Our findingssuggest that HLA-B*15:02 testing before AED therapywould be effective at risk of hypersensitivity and applicableto ASD populations providing hope for preventionin the future.