Abstract

Purpose

The comorbidity of myasthenia gravis (MG), with other autoimmune disorders like systemic lupus erythematosus (SLE), is relatively frequent but the co-occurrence with chronic inflammatory demyelinating polyneuropathy (CIDP) along with various autoimmune manifestations in the absence of thymoma is of extreme rarity. Our aim is to report a case of a woman who presented the concomitant appearance of MG, axonal sensory-motor polyneuropathy and hepatitis that may indicate an underlying pathogenetic link among the different autoimmune disorders.

Materials and methods/results

We present a case of a 54-year-old woman, with a generalized MG and a chronic sensory-motor polyneuropathy, hypothyroidism, anaemia, hepatitis, livedo reticularis and facial flush, of assumed autoimmune background, like SLE, although with persistent negative ANA antibodies, from the beginning and through the whole following years. The Human Leukocyte Antigen (HLA)-DRB1 genotyping showed a profile of alleles (DRB1*11:01/11:04) compatible with CIDP of mainly female gender in Greece and frequencies close to those of Sjogren’s syndrome and scleroderma’s in the Greek population. The diagnostic problems, the atypical clinical, electrophysiological and immunological features are discussed, along with the rarity of the case, with this exceptional combination of autoimmune manifestations, which could be truly associated under the clinical umbrella of a systemic disease, like SLE. However, our patient did not ever fulfil the SLE criteria.

Conclusions

To raise awareness among clinicians about the exceptional combination of autoimmune manifestations driven by a specific HLA background.

中文翻译：

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同一患者出现重症肌无力、非典型多发性神经病和多种自身免疫现象，希腊慢性炎症性脱髓鞘性多发性神经病的 HLA 免疫遗传学特征：病例报告

摘要

目的

重症肌无力 (MG) 与其他自身免疫性疾病如系统性红斑狼疮 (SLE) 的合并症相对频繁，但在没有胸腺瘤的情况下与慢性炎症性脱髓鞘性多发性神经病 (CIDP) 以及各种自身免疫表现的同时发生是极端的稀有。我们的目的是报告一例同时出现 MG、轴索感觉运动多发性神经病和肝炎的女性病例，这可能表明不同自身免疫性疾病之间存在潜在的致病联系。

材料和方法/结果

我们介绍了一名 54 岁女性的病例，她患有全身性 MG 和慢性感觉运动性多发性神经病、甲状腺功能减退、贫血、肝炎、网状青斑和面部潮红，假设为 SLE 等自身免疫背景，但 ANA 持续阴性抗体，从一开始就一直持续到接下来的几年。人类白细胞抗原 (HLA)-DRB1 基因分型显示等位基因谱 ( DRB1*11:01/11:04) 与希腊主要为女性的 CIDP 兼容，其频率与希腊人群中的干燥综合征和硬皮病的频率接近。讨论了诊断问题、非典型临床、电生理学和免疫学特征，以及该病例的罕见性，以及这种自身免疫表现的特殊组合，这可能与系统性疾病（如 SLE）的临床保护伞真正相关。然而，我们的患者从未达到 SLE 标准。

结论

提高临床医生对特定 HLA 背景驱动的自身免疫表现的特殊组合的认识。