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Genetic and Environmental Contributions to Pathogenesis

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Thyroid Eye Disease

Part of the book series: Endocrine Updates ((ENDO,volume 14))

Abstract

The clinical manifestations of Graves’ disease comprise Graves’ hyperthyroidism, Graves’ ophthalmopathy, localized myxedema and thyroid acropachy. Graves’ hyperthyroidism is the most prevalent phenotype with a strong female-to-male preponderance of about 8:1 (1). Among patients with Graves’ hyperthyroidism, only 34% have clinical manifestations of Graves’ ophthalmopathy (2). Orbital imaging demonstrates, however, enlarged extra-ocular muscles in up to 90% of those without clinically apparent ophthalmopathy, indicating involvement of orbital tissues in the vast majority of patients with Graves’ hyperthyroidism (3). Graves’ ophthalmopathy has a lower prevalence and a lower female-to-male ratio of 5.5:1 (4). Among patients with Graves’ ophthalmopathy, 80% have a past or present history of Graves’ hyperthyroidism. Evidence of autoimmune thyroid disease is, however, found in the vast majority of patients who are euthyroid upon presentation of eye signs, and about 15% of them will progress to overt Graves’ hyperthyroidism within a few years (35). Localized (mainly pretibial) myxedema is relatively rare; the female-to-male ratio is 3.5:1 (6). Among patients with localizedmyxedema, over 90% has Graves’ hyperthyroidism and most have also Graves’ ophthalmopathy; 7% has thyroid acropachy. Localized myxedema occurs in 4% of all patients with Graves’ ophthalmopathy, and in 12–15% of those with severe ophthalmopathy. Thyroid acropachy is the rarest of all Graves’ disease manifestations, in which the female preponderance has been lost (female to male ratio of 1:1).

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Wiersinga, W.M. (2001). Genetic and Environmental Contributions to Pathogenesis. In: Bahn, R.S. (eds) Thyroid Eye Disease. Endocrine Updates, vol 14. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-1447-3_7

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