Early disease onset and increased risk of other autoimmune diseases in familial generalized vitiligo
Early disease onset and increased risk of other autoimmune diseases in familial generalized vitiligo
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DOI：
10.1111/j.1600-0749.2005.00242.x
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发表时间：
2005-08-01
期刊：
影响因子：
--
通讯作者：
Spritz, RA
中科院分区：
文献类型：
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作者：
Laberge, G;Mailloux, CM;Spritz, RA
泛发性白癜风是一种自身免疫性疾病，其中获得性白色皮肤斑块和覆盖的毛发是由来自所涉及区域的黑素细胞的自身免疫性损失引起的。虽然通常是散发性的，但白癜风的家族聚集性也可能发生，呈典型的多因子、多基因遗传的非孟德尔模式。散发性白癜风与自身免疫性甲状腺疾病、恶性贫血、阿狄森病和狼疮有关;这些疾病在患者的一级亲属中发生的频率增加。在这里，我们研究了133个“多重”泛发性白癜风家庭，多个受影响的家庭成员。白癜风的发病年龄在这些“多发性”家庭中比散发性白癜风患者更早。多发性白癜风家族的受影响成员具有自身免疫性甲状腺疾病、类风湿性关节炎、银屑病、成人发病的胰岛素依赖型糖尿病、恶性贫血和阿狄森氏病的升高频率。先证者的未受影响的兄弟姐妹有大多数相同的自身免疫性疾病的频率升高，特别是如果先证者患有非白癜风自身免疫性疾病。因此，家族性泛发性白癜风的特点是较早的疾病发作和更广泛的相关自身免疫性疾病比散发性白癜风。这很可能反映了这些家族中自身免疫易感性的更大遗传遗传成分。这些发现对多个成员受白癜风影响的家庭中的自身免疫性疾病监测具有重要意义。
Generalized vitiligo is an autoimmune disorder in which acquired white patches of skin and overlying hair result from autoimmune loss of melanocytes from involved areas. Although usually sporadic, family clustering of vitiligo may occur, in a non-Mendelian pattern typical of multifactorial, polygenic inheritance. Sporadic vitiligo is associated with autoimmune thyroid disease, pernicious anemia, Addison's disease, and lupus; these same disorders occur at increased frequency in patients' first-degree relatives. Here, we studied 133 'multiplex' generalized vitiligo families, with multiple affected family members. The age of onset of vitiligo is earlier in these 'multiplex' families than in patients with sporadic vitiligo. Affected members of the multiplex vitiligo families have elevated frequencies of autoimmune thyroid disease, rheumatoid arthritis, psoriasis, adult-onset insulin-dependent diabetes mellitus, pernicious anemia, and Addison's disease. Probands' unaffected siblings have elevated frequencies of most of these same autoimmune diseases, particularly if the proband had non-vitiligo autoimmune disease. Familial generalized vitiligo is thus characterized by earlier disease onset and a broader repertoire of associated autoimmune diseases than sporadic vitiligo. This mostly likely reflects a greater inherited genetic component of autoimmune susceptibility in these families. These findings have important implications for autoimmune disease surveillance in families in which multiple members are affected with vitiligo.