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Background <p>Myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction, most commonly associated with autoantibodies against the acetylcholine receptor (AChR). While familial clustering of autoimmune MG (fMG) has been described, its prevalence and clinical characteristics remain uncertain. This study aimed to characterize autoimmune fMG cases in an Israeli cohort and describe global data through a systematic literature review.</p> Methods <p>We retrospectively analyzed the medical records of MG patients treated at Rabin Medical Center from 2000 to 2022. The clinical and demographic features of autoimmune fMG cases—defined by compatible clinical, serological, and electrophysiological features—were compared to those of sporadic MG. Additionally, a systematic review of published autoimmune fMG cases was performed according to PRISMA guidelines.</p> Results <p>Among 281 MG patients, 16 patients (5.7%) from eight families met criteria for autoimmune fMG. Compared to sporadic MG, fMG cases had a significantly younger age of onset (median 44.5 vs. 58 years, <i>p</i> = 0.04) and more frequently presented with severe generalized disease (MGFA class IV–V, 43.8% vs. 15%, <i>p</i> = 0.008). The antibody profiles, sex distribution, ocular involvement, and comorbid autoimmune diseases did not differ significantly. All fMG patients responded to immunotherapy. The systematic review identified 73 additional fMG cases, with similar trends toward earlier onset and generalized presentation. Patients with fMG in our cohort had higher rates of severe initial presentation (43.8% vs. 16.4%, <i>p</i> = 0.03) and underwent thymectomy less frequently (19% vs. 49.3%, <i>p</i> = 0.03).</p> Conclusions <p>Autoimmune familial MG occurs in 5–6% of MG cases and is associated with a younger onset and more severe initial presentation compared to sporadic MG, but shows similar long-term treatment response. These findings suggest that genetic factors may contribute to disease susceptibility and phenotypic expression in familial MG, highlighting the need for further research into the underlying genetic and immunological mechanisms.</p>

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Familial myasthenia gravis: characterization of an Israeli cohort and systematic review of the literature

  • 期刊论文

  • 发表日期：

    2025年7月10日

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  • Mark A. Hellmann,
  • Israel Steiner,
  • Maor Mermelstein,
  • Itzhak Friedman,
  • Adi Wilf-Yarkoni,
  • Itay Lotan

摘要

Background

Myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction, most commonly associated with autoantibodies against the acetylcholine receptor (AChR). While familial clustering of autoimmune MG (fMG) has been described, its prevalence and clinical characteristics remain uncertain. This study aimed to characterize autoimmune fMG cases in an Israeli cohort and describe global data through a systematic literature review.

Methods

We retrospectively analyzed the medical records of MG patients treated at Rabin Medical Center from 2000 to 2022. The clinical and demographic features of autoimmune fMG cases—defined by compatible clinical, serological, and electrophysiological features—were compared to those of sporadic MG. Additionally, a systematic review of published autoimmune fMG cases was performed according to PRISMA guidelines.

Results

Among 281 MG patients, 16 patients (5.7%) from eight families met criteria for autoimmune fMG. Compared to sporadic MG, fMG cases had a significantly younger age of onset (median 44.5 vs. 58 years, p = 0.04) and more frequently presented with severe generalized disease (MGFA class IV–V, 43.8% vs. 15%, p = 0.008). The antibody profiles, sex distribution, ocular involvement, and comorbid autoimmune diseases did not differ significantly. All fMG patients responded to immunotherapy. The systematic review identified 73 additional fMG cases, with similar trends toward earlier onset and generalized presentation. Patients with fMG in our cohort had higher rates of severe initial presentation (43.8% vs. 16.4%, p = 0.03) and underwent thymectomy less frequently (19% vs. 49.3%, p = 0.03).

Conclusions

Autoimmune familial MG occurs in 5–6% of MG cases and is associated with a younger onset and more severe initial presentation compared to sporadic MG, but shows similar long-term treatment response. These findings suggest that genetic factors may contribute to disease susceptibility and phenotypic expression in familial MG, highlighting the need for further research into the underlying genetic and immunological mechanisms.