Description
Symptoms
Graves’ Disease is an autoimmune disease of the thyroid gland. It is characterized by hyperthyroidism associated with goiter, heart palpitations, bulging eyes, sweating, heat intolerance, tremor, anxiety and weight loss. The immunological response in Graves’ Disease comprises diffuse lymphocyte infiltration into the thyroid gland with thyroid stimulating immunoglobulin (TSI) autoantibody production. The hyperthyroidism is caused by activation of the thyroid stimulating hormone receptor (TSHR) by binding of autoantibodies.
Procedures
Therapy
Nutrition
Clinical Utility
The most strongly associated gene implicated in Graves’ disease is HLA-DRB1*03:01. Diagnosis is based on thyroid function tests as well as biochemical and clinical manifestations of hyperthyroidism rather than on genetic testing. Genetic testing does however contribute to a better understanding of the origin of the disease for improved diagnosis and treatment.
Scientific References
- Bahn RS. Graves’ ophthalmopathy. N Engl J Med. 2010; 362:726.
- Ban Y et al. Arginine at position 74 of the HLA-DR beta1 chain is associated with Graves’ disease. Genes Immun. 2004; 5:203.
- Chen QY et al. HLA-DRB1*08, DRB1*03/DRB3*0101, and DRB3*0202 are susceptibility genes for Graves’ disease in North American Caucasians, whereas DRB1*07 is protective. J Clin Endocrinol Metab. 1999; 84:3182.
- Grubeck-Loebenstein B et al. Retrobulbar T cells from patients with Graves’ ophthalmopathy are CD8+ and specifically recognize autologous fibroblasts. J Clin Invest. 1994; 93:2738.
- Sekiguchi Y et al. Reverse ‘see-saw’ relationship between Graves’ disease and myasthenia gravis; clinical and immunological studies. J Med Dent Sci. 2005; 52:43.
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