Graves' disease

It is the most common organ-specific autoimmune disorder that causes the overproduction of thyroid hormones (hyperthyroidism). These hormones perform metabolic functions throughout the body, so their alteration can significantly influence overall health. It is estimated that Graves' disease affects 2%-3% of the general population.

Graves' disease affects women more frequently than men. The disorder usually develops during middle age, with a peak incidence from 40 to 60 years, but it can also affect children, adolescents, and the elderly. Additionally, apart from family history, the following factors have been described that could increase the risk:

  • Having other autoimmune disorders.
  • Physical or emotional stress.
  • Pregnancy or labor.
  • Smoking. Furthermore, smokers with Graves' disease also have a higher risk of developing Graves' ophthalmopathy.

Symptoms

The onset of symptoms associated with Graves' disease is usually gradual, and it typically takes several weeks or months to develop. The following are the symptoms most frequently associated with this condition:

  • Anxiety and irritability.
  • A slight tremor in the hands or fingers.
  • Sensitivity to heat and increased sweating, or warm, moist skin.
  • Weight loss, despite normal eating habits.
  • Enlargement of the thyroid gland (goiter).
  • Changes in menstrual cycles.
  • Erectile dysfunction or reduced libido.
  • Frequent bowel movements.
  • Graves' ophthalmopathy. Inflammation of the tissues around the eye that can cause it to protrude from its orbit.
  • Fatigue.
  • Graves' dermopathy, pretibial or myxedema. Thickening of the reddish-looking skin on the front of the shins and, rarely, on the feet.
  • Heart palpitations.
  • Sleep disturbances.

Prevention

Graves' disease can only be prevented to a limited extent since this disorder has an origin that we cannot influence. Some of these recommendations include avoiding or reducing stress-triggering situations as much as possible, quitting smoking, limiting alcohol consumption, and following a balanced diet while exercising regularly.

Number of observed variants

13.5 million variants

Number of risk loci

22 loci

Genes analyzed

ALDH2 ARID5B BACH2 CCR6 CD40 CEP57 CHRNA9 CTLA4 FCRL3 GGTLC2 HLA-DPB1 JAZF1 LPP MAF MAGT1 POU5F1B PTPN22 SETD1A STAT4 TSHR UBASH3A UHRF1BP1 VANGL2

Bibliography

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