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Early disease onset and increased risk of other autoimmune diseases in familial generalized vitiligo

机译:家族性白癜风的早期疾病发作和其他自身免疫性疾病的风险增加

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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.
机译:广泛性白癜风是一种自身免疫性疾病,其中所获得的皮肤白斑和上覆毛发是由于涉及区域的黑素细胞自身免疫性丧失而导致的。尽管通常是零星的,但白癜风的家族聚集可能会以典型的多因子,多基因遗传的非孟德尔模式出现。散发性白癜风与自身免疫性甲状腺疾病,恶性贫血,艾迪生氏病和狼疮有关;这些相同的疾病在患者一级亲属中以增加的频率发生。在这里,我们研究了133个“多重”广义白癜风家族,其中有多个受影响的家族成员。在这些“多重”家庭中,白癜风的发病年龄比散发性白癜风的患者早。多重白癜风家族的受影响成员自身免疫性甲状腺疾病,类风湿性关节炎,牛皮癣,成年发作的胰岛素依赖型糖尿病,恶性贫血和艾迪生氏病的发病率升高。先证者未受影响的兄弟姐妹在大多数相同的自身免疫性疾病中发病率较高,尤其是在先证者患有非玻璃体自身免疫性疾病的情况下。因此,与散发性白癜风相比,家族性全身性白癜风的特征在于更早的疾病发作和更广泛的相关自身免疫性疾病。这很可能反映了这些家族中自身免疫敏感性的更大遗传遗传成分。这些发现对于多个成员患有白癜风的家庭的自身免疫性疾病监测具有重要意义。

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