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In sickness and in health: when myasthenia gravis is a conjugal matter

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Abstract

Objective

Genes and environment contribute to the multifactorial etiology of autoimmune diseases. Familial clusters of autoimmune diseases are often observed among first-degree relatives sharing the same genetic background and environmental exposure. Rarer is the occurrence of the same autoimmune diseases in non-consanguineous spouses. We hereinafter report two non-consanguineous spouses who developed one after the other AChR-positive myasthenia gravis.

Methods

This study has been approved by Catholic University Ethic Committee. The wife, previously affected by Graves-Basedow disease, was the first to be diagnosed with myasthenia gravis, basing on a generalized weakness and an anti-AChR-positive assay. The husband, who suffered from ulcerative colitis, 16 years after his wife diagnosis complained of a mild generalized weakness. Repetitive nerve stimulation test and anti-AChR assay were confirmed myasthenia gravis. In these spouses, myasthenia gravis was not associated with thymoma. Human leukocyte antigen (HLA) class II genotyping showed distinct associations, with the wife carrying the DRB1*03:01 DQB1*02:01 and the husband the DRB1*07 DQB102 alleles.

Results

The wife’s haplotype is strongly associated with myasthenia gravis and thyroiditis whereas HLA DRB1*07 allele was found to be related both to late-onset myasthenia gravis and ulcerative colitis.

Conclusions

Compared with other autoimmune disorders, myasthenia gravis has a lower prevalence. The surveillance environmental exposure may greatly improve our knowledge of non-genetic drivers of autoimmunity.

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Data availability

Data are available at the Neurological department of Fondazione Policlinico A. Gemelli, IRCCS, Rome, Italy.

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Funding

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Author information

Authors and Affiliations

  1. Neurology Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale Cappuccini, 1, 71013, San Giovanni Rotondo, FG, Italy

    Paolo Emilio Alboini

  2. Institute of Neurology, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, Largo A. Gemelli, 8, 00168, Rome, Italy

    Gregorio Spagni & Amelia Evoli

Authors
  1. Paolo Emilio Alboini
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  2. Gregorio Spagni
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  3. Amelia Evoli
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Contributions

Dr. Alboini: data collection, interpretation of results. Dr. Spagni: data collection, interpretation of results. Dr. Evoli: study design, data collection, interpretation of results, review of the manuscript for intellectual content.

Corresponding author

Correspondence to Paolo Emilio Alboini.

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Conflict of interest

The authors declare that they have no conflicts of interest.

Ethics approval

The study was approved by the Ethic Committee (prot. 49886/18) at the Università Cattolica, Policlinico Gemelli.

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All participants signed an informed consent form.

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All participants signed an informed consent form for publication.

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Custom codes are available at the Neurological department Fondazione Policlinico A. Gemelli, IRCCS, Rome, Italy.

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Alboini, P.E., Spagni, G. & Evoli, A. In sickness and in health: when myasthenia gravis is a conjugal matter. Neurol Sci 42, 2099–2101 (2021). https://doi.org/10.1007/s10072-020-04944-y

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  • DOI: https://doi.org/10.1007/s10072-020-04944-y

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