McCombe P A, Chalk J B, Pender M P
Department of Neurology, University of Queensland, Royal Brisbane Hospital, Australia.
J Neurol Sci. 1990 Jul;97(2-3):163-71. doi: 10.1016/0022-510x(90)90215-9.
Multiple sclerosis (MS) has some features which suggest it is an autoimmune disease. Autoimmune diseases frequently occur in families, and patients and families often have more than one type of autoimmune disease. However, there are few reports of MS occurring in patients or families with other autoimmune conditions. It is difficult to make a separate diagnosis of MS in a patient who has a systemic autoimmune disease such as systemic lupus erythematosus (SLE) or Sjögren's syndrome, because these diseases can affect the nervous system directly. However, it is possible to make independent diagnoses of MS and an autoimmune disease confined to another single organ in the same patient, or diagnoses of MS and SLE (or other autoimmune diseases) in different family members. Here we describe clinically definite MS in 2 sisters, one of whom had Graves' disease, and the other of whom had a daughter with SLE and with a high titre of anti-thyroid antibodies. Other female family members over 4 generations had histories of thyroid disease, MS and Addison's disease. Available family members were HLA typed. The MS patients were positive for HLA DR2. All but one of the affected family members were related to the proband on the maternal side, and all of these affected females shared an HLA haplotype. However, this haplotype was also present in unaffected individuals. Thus HLA type alone cannot account for the familial occurrence of these disorders. We conclude that, in this family, MS, like autoimmune thyroid disease and SLE, may be an autoimmune disease developing in genetically predisposed individuals.
多发性硬化症（MS）具有一些表明它是自身免疫性疾病的特征。自身免疫性疾病常在家族中发生，患者及其家族成员往往患有一种以上类型的自身免疫性疾病。然而，关于MS在患有其他自身免疫性疾病的患者或家族中发生的报道很少。对于患有系统性自身免疫性疾病（如系统性红斑狼疮（SLE）或干燥综合征）的患者，很难单独诊断出MS，因为这些疾病可直接影响神经系统。然而，在同一患者中有可能独立诊断出MS和局限于另一个单一器官的自身免疫性疾病，或者在不同家庭成员中诊断出MS和SLE（或其他自身免疫性疾病）。在此，我们描述了2名姐妹患有临床确诊的MS，其中一人患有格雷夫斯病，另一人的女儿患有SLE且抗甲状腺抗体滴度很高。超过4代的其他女性家族成员有甲状腺疾病、MS和艾迪生病史。对现有的家族成员进行了HLA分型。MS患者的HLA DR2呈阳性。除一名患者外，所有受影响的家族成员均与先证者为母系亲属，且所有这些受影响的女性共享一个HLA单倍型。然而，未受影响的个体中也存在这种单倍型。因此，仅HLA类型不能解释这些疾病的家族性发生情况。我们得出结论，在这个家族中，MS与自身免疫性甲状腺疾病和SLE一样，可能是在具有遗传易感性的个体中发生的自身免疫性疾病。
