Schwizer B, Pirovino M
Medizinische Klinik, Solothurnisches Kantonsspital, Olten.
Schweiz Med Wochenschr. 1994 Nov 5;124(44):1959-61.
We report on two siblings with giant cell arteritis (GCA) and polymyalgia rheumatica (PMR). Temporal artery biopsies revealed GCA in three cases, and sclerosis of the wall of the temporal artery in one case. The HLA haplotype was identical in the first pair, and in the second pair HLA-A2, HLA-B39 and HLA-DR53 were identical. In three patients HLA-DR4 was demonstrated. Cases of familial aggregation of GCA have been reported in the literature. In several reports an increased prevalence of HLA-DR4 was described (about 40% of patients with GCA, compared with about 13% in the European population). HLA-DR4 was observed in three of our four patients and a haploidentity was found in one pair. Based on our observation and the results published in the literature, it seems probable that giant cell arteritis--a typical disease of advanced age--has at least partially a genetic basis.
我们报告了两例患有巨细胞动脉炎（GCA）和风湿性多肌痛（PMR）的兄弟姐妹。颞动脉活检显示，3例为GCA，1例为颞动脉壁硬化。第一对兄弟姐妹的HLA单倍型相同，第二对兄弟姐妹的HLA - A2、HLA - B39和HLA - DR53相同。3例患者检测出HLA - DR4。文献中已报道了GCA的家族聚集病例。在几份报告中描述了HLA - DR4的患病率增加（约40%的GCA患者，而欧洲人群中约为13%）。我们的4例患者中有3例观察到HLA - DR4，且在一对患者中发现了单倍型相同。基于我们的观察以及文献发表的结果，似乎很有可能，巨细胞动脉炎——一种典型的老年疾病——至少部分具有遗传基础。
