title: Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome.
abstract: Screening for Smith-Lemli-Opitz Syndrome (SLOS) using elevated 7-dehydrocholesterol (7DHC) as a marker is sensitive, but not always specific. Elevations of 7DHC can be seen in patients who do not have a defect in 7-dehydrocholesterol reductase. These results have often been attributed to medication artifacts, but specific causes have not been well reported. We examined the medical records of patients with elevated 7DHC to determine if they had been diagnosed with SLOS; and if they had not, to identify any common medications that may have caused the elevations. We found three individuals who were affected with SLOS, and 22 with elevated 7DHC in the absence of SLOS. Seven of these individuals underwent molecular testing which showed no mutations, while the other 15 were excluded based on clinical findings and other testing. The medication history of these individuals revealed aripiprazole and trazodone as common medications to all the false positive results.
authors.affiliation: Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN, USA.
authors.forename: Patricia
authors.initials: P
authors.lastname: Hall
authors.forename: Virginia
authors.initials: V
authors.lastname: Michels
authors.forename: Dimitar
authors.initials: D
authors.lastname: Gavrilov
authors.forename: Dietrich
authors.initials: D
authors.lastname: Matern
authors.forename: Devin
authors.initials: D
authors.lastname: Oglesbee
authors.forename: Kimiyo
authors.initials: K
authors.lastname: Raymond
authors.forename: Piero
authors.initials: P
authors.lastname: Rinaldo
authors.forename: Silvia
authors.initials: S
authors.lastname: Tortorelli
mesh_terms: D000068180:Aripiprazole; D003684:Dehydrocholesterols / Q000097:blood*; D006801:Humans; D009154:Mutation; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000235:genetics*; D057089:Pathology, Molecular; D010879:Piperazines / Q000008:administration & dosage; D015363:Quinolones / Q000008:administration & dosage; D019082:Smith-Lemli-Opitz Syndrome / Q000097:blood* / Q000235:genetics* / Q000473:pathology; D014196:Trazodone / Q000008:administration & dosage
chemical_list: D003684:Dehydrocholesterols; D010879:Piperazines; D015363:Quinolones; D000068180:Aripiprazole; C016705:7-dehydrocholesterol; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase; D014196:Trazodone
keywords: 7-dehydrocholesterol; 7DHC; 8-dehydrocholesterol; 8DHC; Aripiprazole; Cholesterol; SLOS; Smith–Lemli–Opitz Syndrome; Trazodone