Balsa A, Pascual-Salcedo D, Tinturé T, Irigoyen M V, Rodríguez-Lozano C, Rodríguez M, Gijón J
Servicio de Reumatología, Hospital Universitario La Paz, Madrid.
Med Clin (Barc). 2000 Jan 15;114(1):3-6. doi: 10.1016/s0025-7753(00)71171-7.
To describe clinical characteristics and the homogeneity of disease expression between involved members in multicase Spanish rheumatoid arthritis (RA) families.
73 families with two or more siblings with RA were found, with a total of 149 patients distributed in 79 pairs (70 sib pairs, and 3 sib trios). Demographic, clinical and radiological characteristics were recorded in a standard questionnaire.
Clinical characteristics were similar to those of sporadic RA with a high frequency of women (78%), positive rheumatoid factor (RF) (86%), erosions (89%) and a 25% of the patients having extraarticular disease. The most important variable in disease severity was disease duration. The concordance between family members of the same age and calendar year of disease onset, and the pattern of disease expression, was not higher than expected, showing that the disease is heterogenic.
Environmental factors seem to be more important in RA susceptibility. Clinical characteristics of familiar RA in Spain do not seem to be different from sporadic RA, although differences were found in disease expression within families that may be due to variation of genetic or environmental factors, responsible for the susceptibility and disease duration.
描述西班牙多例类风湿关节炎(RA)家族中受累成员的临床特征及疾病表现的同质性。
发现73个有两名或更多患RA兄弟姐妹的家族,共有149例患者,分布于79对(70对同胞,3个同胞三联体)中。通过标准问卷记录人口统计学、临床和放射学特征。
临床特征与散发性RA相似,女性比例高(78%)、类风湿因子(RF)阳性(86%)、有侵蚀(89%),25%的患者有关节外疾病。疾病严重程度的最重要变量是病程。同一年龄且疾病发病日历年相同的家庭成员之间的一致性以及疾病表现模式并不高于预期,表明该疾病具有异质性。
环境因素在RA易感性中似乎更为重要。西班牙家族性RA的临床特征似乎与散发性RA并无不同,尽管在家族内部疾病表现存在差异,这可能归因于导致易感性和病程的遗传或环境因素的变化。