McNiven Vanda, Mamane Sarah, Zai Gwyneth, So Joyce
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children.
The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital.
J Nerv Ment Dis. 2019 Mar;207(3):145-151. doi: 10.1097/NMD.0000000000000933.
Olfactory reference syndrome (ORS) is a rarely diagnosed psychiatric disorder in which individuals falsely believe that they emit an offensive body odor. This retrospective cohort study characterizes the clinical and demographic features of 54 individuals who presented to a Canadian genetics clinic for query trimethylaminuria (TMAU), an inherited disorder in which a pungent fishy odor is produced. The majority (83%) were found to have a likely diagnosis of ORS and a high rate (73.3%) of concomitant psychiatric disorders; only two patients were diagnosed with TMAU. This study highlights the genetics clinic as an unexpected and major ascertainment point for ORS, and shows that ORS can be differentiated from TMAU by age of onset (~28 years), odor characterization (refuse-related), and the presence of associated comorbid psychiatric diagnoses. There is a low diagnostic rate of ORS, attesting to the need for improved education and awareness.
嗅觉参照综合征（ORS）是一种很少被诊断出来的精神障碍，患者错误地认为自己散发着令人不快的体味。这项回顾性队列研究描述了54名前往加拿大遗传学诊所咨询三甲胺尿症（TMAU，一种会产生刺鼻鱼腥味的遗传性疾病）的患者的临床和人口统计学特征。大多数患者（83%）被发现可能患有ORS，且伴有精神障碍的比例很高（73.3%）；只有两名患者被诊断为TMAU。这项研究突出了遗传学诊所在ORS诊断方面出人意料的重要作用，并表明ORS可通过发病年龄（约28岁）、气味特征（与垃圾有关）以及相关共病精神诊断的存在与TMAU相鉴别。ORS的诊断率较低，这证明了提高教育水平和认知度的必要性。
