McGrath D S, Daniil Z, Foley P, du Bois J L, Lympany P A, Cullinan P, du Bois R M
Interstitial Lung Disease Unit, Department of Occupational & Environmental Medicine, National Heart & Lung Institute, Imperial College of Science, Technology & Medicine, London SW3 6LR, UK.
Thorax. 2000 Sep;55(9):751-4. doi: 10.1136/thorax.55.9.751.
The last comprehensive epidemiological studies on familial sarcoidosis in the UK were more than 25 years ago, reporting another affected family member in 1.7% of index cases. A significant proportion of like-sex over unlike-sex pairs, an excess of mother-child over father-child associations, and a preponderance of monozygous over dizygous twins was noted. Another study reported ethnic heterogeneity in familial disease. This study was undertaken to identify the risk ratio (lambda(S)) for siblings of familial sarcoidosis in the UK, to determine if the previous epidemiological findings have persisted, and to reassess whether ethnic heterogeneity prevails in familial disease.
Questionnaires were sent to 406 index patients.
Two hundred and sixty eight replies (66%) were received. Twenty four of the original 406 index patients (5.91%) were found to have at least one other relative (first, second or third degree) with biopsy proven sarcoidosis. A lambda(S) value of 36-73 was calculated indicating significant familial clustering of the disease. Ethnically the families comprised 62.5% Caucasian, 29.2% Afro-Caribbean, and 8.3% Asian. Mean age at diagnosis was 39.8 years for women and 40.9 years for men with a male to female ratio of 1:1.7. This differed for the Asian families in which all the affected members were male. Three sets of female twins (two monozygous and one dizygous) were included. There was an equal distribution of like-sex (primarily female) and unlike-sex families as well as mother-child and father-child pairs. Pulmonary involvement was predominant irrespective of ethnicity, as was the need for corticosteroid treatment.
These results support the theory that a shared determinant (either genetic or environmental) is operating in familial sarcoidosis and suggest that this determinant is similar for all ethnic groups.
英国上一次关于家族性结节病的全面流行病学研究是在25年多以前，报告称在1.7%的索引病例中有另一名受影响的家庭成员。研究发现同性配对与异性配对的比例显著，母子关联超过父子关联，单卵双胞胎比双卵双胞胎更常见。另一项研究报告了家族性疾病中的种族异质性。本研究旨在确定英国家族性结节病患者兄弟姐妹的风险比（λS），以确定先前的流行病学研究结果是否仍然存在，并重新评估家族性疾病中种族异质性是否普遍存在。
向406名索引患者发送问卷。
共收到268份回复（66%）。在最初的406名索引患者中，有24名（5.91%）被发现至少有一名其他亲属（一级、二级或三级）经活检证实患有结节病。计算得出λS值为36 - 73，表明该疾病存在显著的家族聚集性。从种族来看，这些家庭中62.5%为白种人，29.2%为非裔加勒比人，8.3%为亚洲人。女性诊断时的平均年龄为39.8岁，男性为40.9岁，男女比例为1:1.7。亚洲家庭有所不同，所有受影响成员均为男性。纳入了三组女性双胞胎（两组单卵双胞胎和一组双卵双胞胎）。同性（主要为女性）和异性家庭以及母子和父子对的分布均等。无论种族如何，肺部受累均占主导地位，使用皮质类固醇治疗的需求也是如此。
这些结果支持了家族性结节病中存在共同决定因素（基因或环境因素）的理论，并表明该决定因素在所有种族群体中相似。
