Department of Pulmonology, St Antonius ILD Center of Excellence, St Antonius Hospital, Nieuwegein.
Division of Heart and Lung, University Medical Center Utrecht, Utrecht, The Netherlands.
Curr Opin Pulm Med. 2019 Sep;25(5):539-553. doi: 10.1097/MCP.0000000000000598.
Sarcoidosis is an immune-mediated disease of unknown cause. Immune-mediated diseases appear to cluster in patients and in families. We review what is known on this topic for sarcoidosis, and what factors may underlie disease clustering.
In populations of patients with sarcoidosis, relative risk estimates of Sjögren's syndrome, systemic lupus erythematosus, autoimmune hepatitis, ankylosing spondylitis, multiple sclerosis (MS), celiac disease, autoimmune thyroid disease, and ulcerative colitis, varied between 2.1 and 11.6. In relatives of patients with sarcoidosis, relative risk estimates varied between 1.3 and 5.8 for sarcoidosis, MS, celiac disease, type 1 diabetes, Graves' disease, rheumatoid arthritis, Crohn's disease, and ulcerative colitis. Shared risk loci in key immunological pathways provide evidence for a contribution to development of multiple diseases. Identical changes in the immune status, epigenetic alterations, and environmental triggers have been detected in several diseases, and drug-induced disease is likely responsible for a small portion of co-occurring disease.
Clustering of sarcoidosis and other immune-mediated diseases in patients and in their relatives occurs for sarcoidosis, MS, celiac disease, Graves' disease, and ulcerative colitis. Further research is needed to substantiate causal links and risk estimates in patients and their relatives.
结节病是一种病因不明的免疫介导性疾病。免疫介导性疾病似乎在患者和家族中聚集。我们回顾了结节病在这方面的已知情况，以及可能导致疾病聚集的因素。
在结节病患者人群中，干燥综合征、系统性红斑狼疮、自身免疫性肝炎、强直性脊柱炎、多发性硬化症（MS）、乳糜泻、自身免疫性甲状腺疾病和溃疡性结肠炎的相对风险估计值在 2.1 至 11.6 之间。在结节病患者的亲属中，结节病、MS、乳糜泻、1 型糖尿病、格雷夫斯病、类风湿关节炎、克罗恩病和溃疡性结肠炎的相对风险估计值在 1.3 至 5.8 之间。关键免疫途径中的共享风险基因座为多种疾病的发展提供了证据。几种疾病中检测到相同的免疫状态变化、表观遗传改变和环境触发因素，药物诱导的疾病可能是同时发生的多种疾病的一小部分原因。
结节病和其他免疫介导性疾病在患者及其亲属中聚集，这种情况与结节病、MS、乳糜泻、格雷夫斯病和溃疡性结肠炎有关。需要进一步的研究来证实患者及其亲属中的因果关系和风险估计。
