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Graves' orbitopathy as a rare disease in Europe: a European Group on Graves' Orbitopathy (EUGOGO) position statement

Perros, P., Hegedüs, L., Bartalena, L., Marcocci, C., Kahaly, G. J., Baldeschi, L., Salvi, M., Lazarus, John, Eckstein, A., Pitz, S., Boboridis, K., Anagnostis, P., Ayvaz, G., Boschi, A., Brix, T. H., Currò, N., Konuk, O., Marinò, M., Mitchell, A. L., Stankovic, B., Törüner, F. B., von Arx, G., Zarkovic, M. and Wiersinga, W. M. 2017. Graves' orbitopathy as a rare disease in Europe: a European Group on Graves' Orbitopathy (EUGOGO) position statement. Orphanet Journal of Rare Diseases 12 (1) 10.1186/s13023-017-0625-1

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Abstract

Background Graves’ orbitopathy (GO) is an autoimmune condition, which is associated with poor clinical outcomes including impaired quality of life and socio-economic status. Current evidence suggests that the incidence of GO in Europe may be declining, however data on the prevalence of this disease are sparse. Several clinical variants of GO exist, including euthyroid GO, recently listed as a rare disease in Europe (ORPHA466682). The objective was to estimate the prevalence of GO and its clinical variants in Europe, based on available literature, and to consider whether they may potentially qualify as rare. Recent published data on the incidence of GO and Graves’ hyperthyroidism in Europe were used to estimate the prevalence of GO. The position statement was developed by a series of reviews of drafts and electronic discussions by members of the European Group on Graves’ Orbitopathy. The prevalence of GO in Europe is about 10/10,000 persons. The prevalence of other clinical variants is also low: hypothyroid GO 0.02–1.10/10,000; GO associated with dermopathy 0.15/10,000; GO associated with acropachy 0.03/10,000; asymmetrical GO 1.00–5.00/10,000; unilateral GO 0.50–1.50/10,000. Conclusion GO has a prevalence that is clearly above the threshold for rarity in Europe. However, each of its clinical variants have a low prevalence and could potentially qualify for being considered as a rare condition, providing that future research establishes that they have a distinct pathophysiology. EUGOGO considers this area of academic activity a priority.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Uncontrolled Keywords: Graves’ orbitopathy, Ophthalmopathy, Prevalence, Incidence, Epidemiology, Rare disease, EUGOGO
Publisher: BioMed Central
ISSN: 1750-1172
Date of Acceptance: 5 April 2017
Last Modified: 23 May 2018 13:18
URI: http://orca.cf.ac.uk/id/eprint/103652

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