Taccari E, Spadaro A, Sorgi M L, Riccieri V, Mora B
Dipartimento di Clinica e Terapia Medica Applicata, Unità di Reumatologia, Università di Roma, Rome.
Reumatismo. 2004 Jul-Sep;56(3):162-8. doi: 10.4081/reumatismo.2004.162.
To analyze PsA patients with and without a familiar distribution for Ps and PsA, in order to better evaluate the genetic data, to verify the existence of different expression of the disease and finally to define the susceptibility to treatment in these patients.
230 PsA patients were selected for familiar or sporadic distribution of the disease and were evaluated for the main clinical, demographic, radiological and laboratory features, as well as for the ongoing treatments. In each patient HLA class I (A,B,C) and II (DRB1, DQB1) antigens were typed with PCR-SSP method while MICA-A exon 5 microsatellite typing was performed by heteroduplex analysis in 122 subjects.
A familiar distribution for Ps and PsA was found in 68 patients (29.6%) although only two patients had familiarity for PsA. In the familiar PsA group the male prevalence was significantly higher respect to the sporadic one (p<0.001) and the more frequently involved relative was the father (28%). Mean age (p<0.006) and age at onset of Ps (p<0.004) and PsA (p<0.014) were significantly lower in familiar respect to sporadic PsA. Between the two groups no difference was found concerning the articular involvement, the radiological findings, the disease activity (including number of painful/swollen joints), the inflammatory laboratory parameters (including ESR and CRP) and genetic aspects, including the frequencies of MICA-A alleles that were analysed in 30 patients with the familiar form and in 92 with the sporadic one. In the follow-up the therapeutic response to any evaluated treatment adopted for PsA did not show any significant difference in the two groups. All these results were confirmed even when the patients in the two groups were matchable for sex, age and disease duration.
Our results confirm that familiar PsA is characterized by an early onset of the disease and by a male and fatherly predominance respect to the sporadic form, although the clinical-radiologic findings, the genetic typing and the therapeutic response do not permit us to identify any particular subset.
分析有或无银屑病（Ps）和银屑病关节炎（PsA）家族分布的PsA患者，以便更好地评估基因数据，验证疾病不同表现的存在，并最终确定这些患者对治疗的易感性。
选择230例有疾病家族性或散发性分布的PsA患者，评估其主要临床、人口统计学、放射学和实验室特征，以及正在进行的治疗。对每位患者采用聚合酶链反应-序列特异性引物（PCR-SSP）方法进行I类（A、B、C）和II类（DRB1、DQB1）人类白细胞抗原（HLA）分型，同时对122例患者采用异源双链分析进行MICA-A外显子5微卫星分型。
68例患者（29.6%）有Ps和PsA的家族分布，尽管只有2例患者有PsA家族史。在家族性PsA组中，男性患病率显著高于散发性PsA组（p<0.001），最常受累的亲属是父亲（28%）。家族性PsA组的平均年龄（p<0.006）、Ps发病年龄（p<0.004）和PsA发病年龄（p<0.014）显著低于散发性PsA组。两组在关节受累、放射学表现、疾病活动度（包括疼痛/肿胀关节数）、炎症实验室指标（包括血沉和C反应蛋白）以及基因方面，包括在30例家族性患者和92例散发性患者中分析的MICA-A等位基因频率，均未发现差异。在随访中，两组对任何评估的PsA治疗的反应均未显示出显著差异。即使两组患者在性别、年龄和病程方面相匹配，所有这些结果仍得到证实。
我们的结果证实，家族性PsA的特点是发病早，相对于散发性PsA，男性和父亲占优势，尽管临床-放射学表现、基因分型和治疗反应无法让我们识别出任何特定亚组。
