Amela-Peris R, Aladro Y, Conde-Sendín M A, Alemany-Rodríguez M J, Muñoz-Fernández C, Reyes-Yáñez M P, Déniz-Naranjo M C, Sánchez-García F
Servicio de Neurología, Hospital de Gran Canaria Dr. Negrín, Las Palmas de Gran Canaria, Spain.
Rev Neurol. 2004;39(10):911-4.
Multiple sclerosis (MS) is an autoimmune disease that occurs in genetically predisposed individuals. Its inheritance is polygenic. Genetic epidemiology studies have shown an increased familial aggregation. AIM. To determine the prevalence of familial MS (fMS) in a series of patients from the Canary Islands.
From a cohort of 266 patients with defined MS, during a 6-year period, we investigated prospectively by personal interviews the presence of MS on first and second degree relatives. We analysed as well the presence of HLA DRB1 in affected families, and also clinical and demographic characteristics in fMS and compared them with sporadic MS (sMS).
fMS prevalence was 13.9% (27 non-related families with 50 affected individuals). The HLA DRB01*1501 allele were present in 51,8% of familial cases. We could not found either intrafamilial concordance in clinically affected regions and age of onset or clinical evolution. We have not found any phenotypic differences between familial and sMS.
The prevalence of fMS in our series is comparable to that in other Mediterranean populations. Our results do not support that fMS was a different clinical entity of sMS and intrafamilial concordance in its clinical expression.
多发性硬化症(MS)是一种发生在具有遗传易感性个体中的自身免疫性疾病。其遗传方式为多基因遗传。遗传流行病学研究表明家族聚集性增加。目的:确定加那利群岛一系列患者中家族性MS(fMS)的患病率。
在6年期间,从266例确诊为MS的患者队列中,我们通过个人访谈前瞻性地调查了一级和二级亲属中MS的存在情况。我们还分析了受累家庭中HLA DRB1的存在情况,以及fMS的临床和人口统计学特征,并将其与散发性MS(sMS)进行比较。
fMS患病率为13.9%(27个无亲缘关系的家庭,50名受累个体)。HLA DRB01*1501等位基因在51.8%的家族性病例中存在。我们在临床受累区域、发病年龄或临床病程方面均未发现家族内一致性。我们未发现家族性MS和散发性MS之间存在任何表型差异。
我们系列研究中fMS的患病率与其他地中海人群相当。我们的结果不支持fMS是sMS的不同临床实体以及其临床表型存在家族内一致性这一观点。