Graves Disease is an autoimmune disease of the thyroid gland. It is characterised by hyperthyroidism associated with goitre, 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.
Monozygotic and dizygotic twin studies have shown a much higher concordance in monozygotic twins (20%) than dizygotic, indicating a genetic component to Graves Disease. The most strongly associated gene is the HLA class II gene. Implicated haplotypes include DRB1*03:01-DQA1*05:01-DQB1*02:01 (DR17, DQ2) and DRB1*04:01-DQA1*03:01-DQB1*03:02 (DR4, DQ8). The highest risk is associated with DR17, DQ2. HLA-DRB1*07 (DR7) is protective for Graves Disease.
Diagnosis is based on thyroid function tests and biochemical and clinical manifestations of hyperthyroidism rather than on genetic testing. Genetic testing does however contribute to a better understanding of the aetiology of the disease.
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