Bergquist Annika, Lindberg Greger, Saarinen Susanne, Broomé Ulrika
Department of Gastroenterology and Hepatology, Karolinska University Hospital, Huddinge, Karolinska Institutet, Stockholm, 141 86 Huddinge, Sweden.
J Hepatol. 2005 Feb;42(2):252-6. doi: 10.1016/j.jhep.2004.10.011.
BACKGROUND/AIMS: The aim of the present study was to investigate the familial occurrence of autoimmune diseases in a large group of patients with primary sclerosing cholangitis (PSC).
All patients with PSC treated at Huddinge University Hospital between 1984 and 1999 were included (n=145). For every patient with PSC and inflammatory bowel disease (IBD) (n=126) we randomly selected a control patient with IBD (n=126), matched for age, sex and type of IBD. A questionnaire comprising information about autoimmune diseases among first-degree relatives was answered by all patients and controls.
We identified 22 index cases with PSC from 21 families with a first-degree relative with either chronic liver disease and/or IBD. Five patients with PSC had a first-degree relative with PSC (3.4%). The prevalence of PSC among first-degree relatives was 0.7% (5/717). In siblings the prevalence was 1.5% (4/269). The prevalence of first-degree relatives with autoimmune diseases outside the liver was similar in PSC patients and controls.
First-degree relatives of patients with PSC have a PSC prevalence of 0.7%. This represents a nearly 100-fold increased risk of developing PSC compared with the general population, supporting the hypothesis that genetic factors are of importance for development of PSC.
背景/目的：本研究旨在调查一大群原发性硬化性胆管炎（PSC）患者自身免疫性疾病的家族发生率。
纳入1984年至1999年间在胡丁厄大学医院接受治疗的所有PSC患者（n = 145）。对于每一位患有PSC和炎症性肠病（IBD）的患者（n = 126），我们随机选择一名患有IBD的对照患者（n = 126），根据年龄、性别和IBD类型进行匹配。所有患者和对照者都回答了一份包含一级亲属自身免疫性疾病信息的问卷。
我们从21个有一级亲属患有慢性肝病和/或IBD的家庭中确定了22例PSC索引病例。5例PSC患者有一级亲属患有PSC（3.4%）。一级亲属中PSC的患病率为0.7%（5/717）。在兄弟姐妹中患病率为1.5%（4/269）。PSC患者和对照者中肝脏外自身免疫性疾病一级亲属的患病率相似。
PSC患者的一级亲属中PSC患病率为0.7%。与普通人群相比，这代表着患PSC的风险增加了近100倍，支持了遗传因素对PSC发病具有重要意义的假说。
