Abacar Kerem, Boncukcuoğlu Ayşe Elif, Deniz Rabia, Uludogan Burcu Ceren, Kaş Dilara, Alkan Elifnur, Kaya Gamzenur, Bozkurt Tuğçe, Yaşar Bilge Nazife Şule, Bes Cemal, Kaşifoğlu Timuçin, McGonagle Dennis, Ergun Tulin, Direskeneli Haner, Alibaz-Oner Fatma
Division of Rheumatology, Department of Internal Medicine, Marmara University School of Medicine, Istanbul, Türkiye.
Leeds Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds, Chapel Allerton Hospital, Leeds, United Kingdom.
Eur J Rheumatol. 2025 Jul 16;12(2):1-5. doi: 10.5152/eurjrheum.2025.24116.
Background: Behçet's disease (BD) exhibits significant phenotypic diversity. The genetic basis of phenotypic variations in BD has not yet been elucidated. Based on the high frequency of familial BD, we aimed to analyze the familial aggregation of various manifestations of BD in this study. Methods: Patients with BD from 3 Turkish tertiary rheumatology outpatient clinics were evaluated. Demographic and clinical characteristics of the familial group with either a first- or second-degree relative with BD and the non-familial group were compared. Afterward, patients in the familial disease group for 5 years or longer were divided into 2: an "index patient" and a "first-degree relative patient" and the presence of BD manifestations were compared between these 2 groups. Results: We identified 864 BD patients (mean age (SD): 47.9 (12) years, disease duration (SD): 83.7 (65.3) months) with 251 (29.1%) having a BD family history. Genital ulcers (P =.002) and papulopustular lesions (P < .001) were detected more frequently in the familial group. Also in the familial group, statistically significant correlations were detected between the index patient and the first-degree relativepatient in terms of erythema nodosum-like lesions (r: 0.398, P: .016), pathergy test positivity (r: 0.561, P: .002), peripheral joint involvement (r: 0.563, P < .001) and vascular involvement (r: 0.408, P: .014). Conclusion: Familial BD may differ from sporadic BD. Additionally, erythema nodosum-like lesions, pathergy test positivity, and vascular and joint involvement may tend to show familial aggregation.
白塞病（BD）表现出显著的表型多样性。BD表型变异的遗传基础尚未阐明。基于BD家族性的高发病率，我们旨在分析本研究中BD各种表现的家族聚集性。方法：对来自3家土耳其三级风湿病门诊的BD患者进行评估。比较有BD一级或二级亲属的家族组和非家族组的人口统计学和临床特征。之后，将患病5年或更长时间的家族性疾病组患者分为两组：“索引患者”和“一级亲属患者”，并比较这两组中BD表现的存在情况。结果：我们确定了864例BD患者（平均年龄（标准差）：47.9（12）岁，病程（标准差）：83.7（65.3）个月），其中251例（29.1%）有BD家族史。家族组中生殖器溃疡（P = 0.002）和丘疹脓疱性病变（P < 0.001）的检出率更高。同样在家族组中，在结节性红斑样病变（r：0.398，P：0.016）、针刺反应阳性（r：0.561，P：0.002）、外周关节受累（r：0.563，P < 0.001）和血管受累（r：0.408，P：0.014）方面，索引患者和一级亲属患者之间检测到统计学上的显著相关性。结论：家族性BD可能与散发性BD不同。此外，结节性红斑样病变、针刺反应阳性以及血管和关节受累可能倾向于表现出家族聚集性。
