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  • Author: Roberto Rocchi x
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Elena Sabini Department of Clinical and Experimental Medicine, Endocrinology Units, University of Pisa and University Hospital of Pisa, Pisa, Italy

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Ilaria Ionni Department of Clinical and Experimental Medicine, Endocrinology Units, University of Pisa and University Hospital of Pisa, Pisa, Italy

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Roberto Rocchi Department of Clinical and Experimental Medicine, Endocrinology Units, University of Pisa and University Hospital of Pisa, Pisa, Italy

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Paolo Vitti Department of Clinical and Experimental Medicine, Endocrinology Units, University of Pisa and University Hospital of Pisa, Pisa, Italy

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Claudio Marcocci Department of Clinical and Experimental Medicine, Endocrinology Units, University of Pisa and University Hospital of Pisa, Pisa, Italy

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Michele Marinò Department of Clinical and Experimental Medicine, Endocrinology Units, University of Pisa and University Hospital of Pisa, Pisa, Italy

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Background: Graves’ orbitopathy (GO) is believed to be the consequence of autoimmunity against antigens that are present both in the thyroid and orbital tissues. Massive release of thyroid antigens causes the appearance or deterioration of GO in patients with Graves’ hyperthyroidism (GH), as it occurs following radioiodine treatment. In theory, a similar release of autoantigens may occur at the eye level, for example due to an orbital trauma or surgical manipulation. To our knowledge, this is the first report of a case of de novo appearance of GO and then GH after an eye trauma, possibly reflecting spreading of autoantigens and activation of the immune system against shared orbital and thyroid antigens. Case Report: An otherwise healthy, 57-year-old man presented 6 months after the appearance of a monolateral right orbitopathy, which occurred 40 days after a trauma in the ipsilateral eye. His thyroid function was normal, with positive serum anti-TSH receptor autoantibodies. The thyroid was normal on ultrasound. A month later he developed hyperthyroidism and orbitopathy in the left eye. Discussion: The development of GO after an eye trauma may reflect tissue damage with release of autoantigens and consequent autoimmunity in a predisposed individual (our patient had a familial history of autoimmune thyroid disease). The subsequent development of hyperthyroidism is in keeping with the hypothesis that GH and GO are due to autoimmunity against antigens present both in the thyroid and in orbital tissues.

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Elena Sabini Endocrinology Units, Department of Clinical and Experimental Medicine, University of Pisa and University Hospital of Pisa, Pisa, Italy

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Marenza Leo Endocrinology Units, Department of Clinical and Experimental Medicine, University of Pisa and University Hospital of Pisa, Pisa, Italy

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Barbara Mazzi Endocrinology Units, Department of Clinical and Experimental Medicine, University of Pisa and University Hospital of Pisa, Pisa, Italy

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Roberto Rocchi Endocrinology Units, Department of Clinical and Experimental Medicine, University of Pisa and University Hospital of Pisa, Pisa, Italy

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Francesco Latrofa Endocrinology Units, Department of Clinical and Experimental Medicine, University of Pisa and University Hospital of Pisa, Pisa, Italy

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Marco Nardi Ophthalmopathy Unit I, Department of Surgical, Medical and Molecular Pathology, University of Pisa and University Hospital of Pisa, Pisa, Italy

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Paolo Vitti Endocrinology Units, Department of Clinical and Experimental Medicine, University of Pisa and University Hospital of Pisa, Pisa, Italy

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Claudio Marcocci Endocrinology Units, Department of Clinical and Experimental Medicine, University of Pisa and University Hospital of Pisa, Pisa, Italy

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Michele Marinò Endocrinology Units, Department of Clinical and Experimental Medicine, University of Pisa and University Hospital of Pisa, Pisa, Italy

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Objectives: There is a general belief that Graves’ orbitopathy (GO) is a “chronic” disease, namely that patients’ eyes do not return to how they were before GO appeared. Here, we investigate this issue from both the patient’s and the physician’s point of view. Study Design: We studied the disappearance of GO, regardless of treatment, in all consecutive patients with a GO history of at least 10 years who came for a follow-up visit over a period of 5 years. Patients underwent an ophthalmological examination and were asked to answer a questionnaire on self-perception related to GO. Results: We studied 99 consecutive patients with a GO duration ≥10 years. Between the first and the last observation, patients received several types of treatment for their thyroid disease and/or for GO. At the end of follow-up, GO was considered disappeared based on objective criteria in 8 patients (∼8%) and based on subjective criteria in 24 patients (∼24%). When we considered both subjective and objective criteria, only 2 patients (∼2%) had all criteria fulfilled and could be considered as GO-free. Conclusions: GO is a chronic disease in the vast majority of patients. Even after a very long time since its onset, complete disappearance is rare, although a minority of patients believe they do not have GO anymore and an even lower proportion do not have relevant GO signs. Our findings have obvious implications in patient management and counseling.

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Michele Marino M Marino, Clinical and Experimental Medicine, University of Pisa, Pisa, 56124, Italy

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Giovanna Rotondo Dottore G Rotondo Dottore, University of Pisa, Pisa, Italy

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Francesca Menconi F Menconi, Pisa University Hospital, Pisa, Italy

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Simone Comi S Comi, Pisa, Italy

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Giada Cosentino G Cosentino, Pisa, Italy

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Roberto Rocchi R Rocchi, Pisa University Hospital, Pisa, Italy

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Francesco Latrofa F Latrofa, University of Pisa Department of Clinical and Experimental Medicine, Pisa, 56126, Italy

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Michele Figus M Figus, Pisa, Italy

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Ferruccio Santini F Santini, University of Pisa, Pisa, 56126, Italy

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Objectives

The pathogenesis of Graves’ orbitopathy (GO) remains to be fully elucidated. Here we reviewed the role of genetics and epigenetics.

Design

We conducted a PubMed search with the following key words: Graves’ orbitopathy, thyroid eye disease; or Graves’ ophthalmopathy; or thyroid-associated ophthalmopathy; and: genetic, or epigenetic, or gene expression, or gene mutation, or gene variant, or gene polymorphism, or DNA methylation, or DNA acetylation. Articles in which whole DNA and/or RNA sequencing, proteome and methylome analysis were performed were chosen.

Results

The different prevalence of GO in the two sexes as well as racial differences suggest that genetics play a role in GO pathogenesis. In addition, the long-lasting phenotype of GO and of patient-derived orbital fibroblasts suggest a genetic or epigenetic mechanism. Although no genes have been found to confer a specific risk for GO, differential gene expression has been reported in orbital fibroblasts from GO patients vs control fibroblasts, suggesting that an epigenetic mechanism may be involved. In this regard, a different degree of DNA methylation, which affects gene expression, has been found between GO and control fibroblasts, which was confirmed by whole methylome analysis. Histone acetylation and deacetylation, which also affect gene expression, remain to be investigated.

Conclusions

Although pathogenetic gene variants have not been reported, epigenetic mechanisms elicited by an initial autoimmune insult seem to be needed for differential gene expression to occur and, thus, for GO to develop and persist over time.

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