Paris Descartes University, Rheumatology A Department, Cochin Hospital, APHP, France.
J Rheumatol. 2012 Mar;39(3):532-8. doi: 10.3899/jrheum.111104. Epub 2012 Jan 15.
To assess the prevalence of autoimmune diseases in first-degree relatives of patients with systemic sclerosis (SSc), and to compare those results with control families in order to identify patterns of autoimmune diseases in relatives.
A retrospective case-control postal questionnaire survey was performed in France to recruit patients with SSc belonging to an association of patients with SSc and unrelated age-matched and sex-matched controls. Each participant was asked to self-report on the existence of autoimmune diseases in their first-degree relatives. The prevalence of autoimmune diseases in the families of patients with SSc was compared with the corresponding prevalence in the families of controls.
A total of 121 families out of 373 (32.4%) with a member having SSc reported at least 1 autoimmune disease in 1 or more first-degree relatives. The most frequent autoimmune diseases in SSc families when adjusted for family size were autoimmune thyroid disease (AITD; 4.9%), rheumatoid arthritis (4.1%), psoriasis (3.9%), and type 1 diabetes mellitus (2.9%). Compared with control families, AITD and connective tissue diseases (SSc, systemic lupus erythematosus, or Sjögren's syndrome) were more likely to occur in families with SSc (p = 0.01 and p = 0.01, respectively), with OR of 3.20 (95% CI 1.25-8.18) and 5.20 (95% CI 1.22-21.8). In contrast, inflammatory bowel disease was less likely to occur within families with SSc (p = 0.02, OR 0.29, 95% CI 0.11-0.80). In addition, the coexistence of more than 1 autoimmune disease in the index SSc case was associated with familial aggregation of autoimmune diseases.
Our results show that autoimmune diseases cluster within families of patients with SSc. This supports the notion that these diseases might arise on a shared genetic basis underlying several autoimmune phenotypes.
评估系统性硬化症（SSc）患者一级亲属中自身免疫性疾病的患病率，并与对照组家族进行比较，以确定亲属中自身免疫性疾病的模式。
在法国进行了一项回顾性病例对照邮寄问卷调查，以招募属于 SSc 患者协会的 SSc 患者和年龄、性别匹配的无关对照患者。每个参与者被要求自我报告其一级亲属中是否存在自身免疫性疾病。将 SSc 患者亲属中自身免疫性疾病的患病率与对照组亲属中的相应患病率进行比较。
在 373 个有成员患有 SSc 的家庭中，共有 121 个家庭（32.4%）报告称其 1 个或多个一级亲属中存在至少 1 种自身免疫性疾病。在调整家族规模后，SSc 家族中最常见的自身免疫性疾病为自身免疫性甲状腺疾病（AITD；4.9%）、类风湿关节炎（4.1%）、银屑病（3.9%）和 1 型糖尿病（2.9%）。与对照组家族相比，AITD 和结缔组织疾病（SSc、系统性红斑狼疮或干燥综合征）更易发生于 SSc 家族（p=0.01 和 p=0.01），其比值比（OR）分别为 3.20（95%可信区间 1.25-8.18）和 5.20（95%可信区间 1.22-21.8）。相反，炎症性肠病在 SSc 家族中较少发生（p=0.02，OR 0.29，95%可信区间 0.11-0.80）。此外，索引 SSc 病例中存在多种自身免疫性疾病共存与自身免疫性疾病的家族聚集有关。
我们的结果表明，自身免疫性疾病在 SSc 患者的亲属中聚集。这支持了这些疾病可能基于多种自身免疫表型的共同遗传基础而出现的观点。
