Kalantar J S, Locke G R, Zinsmeister A R, Beighley C M, Talley N J
Department of Medicine, University of Sydney, Australia.
Gut. 2003 Dec;52(12):1703-7. doi: 10.1136/gut.52.12.1703.
Patients with irritable bowel syndrome (IBS) often report family members with similar symptoms, but family studies are lacking. We hypothesised that if there is familial aggregation, there would be an increased frequency of IBS in first degree relatives of IBS patients compared with relatives of controls (the patient's spouse).
A valid self report bowel disease questionnaire (BDQ) that recorded symptoms, the somatic symptom checklist (a measure of somatisation), and a family information form (FIF) to collect the names and addresses of all first degree relatives were mailed to two groups of patients and their spouses (patients attending an IBS educational programme and residents of Olmsted County, Minnesota, who had been coded as IBS on a database). A BDQ was then mailed to all first degree relatives of subjects identified from the FIF. IBS diagnosis in the relatives was based on the Manning criteria.
The BDQ was sent to a total of 355 eligible relatives; 71% responded (73% relatives of patients, 67% relatives of spouses). Relatives were comparable in mean age, sex distribution, and somatisation score. IBS prevalence was 17% in patients' relatives versus 7% in spouses' relatives (odds ratio adjusted for age and sex 2.7 (95% confidence interval (CI) 1.2, 6.3)). When also adjusted for somatisation score, the odds ratio was reduced to 2.5 (95% CI 0.9, 6.7).
Familial aggregation of IBS occurs, supporting a genetic or intrafamilial environment component, but this may be explained in part by familial aggregation of somatisation.
肠易激综合征（IBS）患者常报告有症状相似的家庭成员，但缺乏家族性研究。我们推测，如果存在家族聚集性，那么与对照组（患者配偶）的亲属相比，IBS患者的一级亲属中IBS的发病率会增加。
将一份有效的记录症状的肠道疾病自我报告问卷（BDQ）、躯体症状清单（一种躯体化测量方法）以及一份用于收集所有一级亲属姓名和地址的家庭信息表（FIF）邮寄给两组患者及其配偶（参加IBS教育项目的患者以及明尼苏达州奥尔姆斯特德县数据库中被编码为IBS的居民）。然后将BDQ邮寄给从FIF中确定的所有受试者的一级亲属。亲属中的IBS诊断基于曼宁标准。
共向355名符合条件的亲属发送了BDQ；71%的人回复（患者亲属的回复率为73%，配偶亲属的回复率为67%）。亲属在平均年龄、性别分布和躯体化得分方面具有可比性。患者亲属中IBS患病率为17%，配偶亲属中为7%（经年龄和性别调整后的优势比为2.7（95%置信区间（CI）1.2，6.3））。当也对躯体化得分进行调整时，优势比降至2.5（95%CI 0.9，6.7）。
IBS存在家族聚集性，支持遗传或家族内环境因素，但这可能部分由躯体化的家族聚集性来解释。
