Graves' disease

It is the organ-specific autoimmune disorder that is the most common cause of overproduction of thyroid hormones (hyperthyroidism). These hormones exert metabolic functions at the level of the whole organism, so their alteration can significantly influence the general state of health. It is estimated that Graves' disease affects 2%-3% of the general population.

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

  • Suffering from other autoimmune disorders.
  • Physical or emotional stress.
  • Pregnancy or labor.
  • Smoking. In addition, smokers with Graves' disease are also at increased risk for Graves' eye disease.

In its development, a 79% contribution of genetic factors has been identified, while environmental factors explain the remaining 21% of the risk. The study by meta-analysis of various human traits on the population included in both the UK Biobank and Japanese Asian population, as well as the FinnGen project, has identified up to 23 risk loci associated with the development of Graves' disease in a total population of almost 5500 cases and up to 630000 controls.

Symptoms

The onset of symptoms associated with Graves' disease is usually gradual, usually taking 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 hot, clammy skin.
  • Weight loss, despite normal eating habits.
  • Enlargement of the thyroid gland (goiter).
  • Changes in menstrual cycles.
  • Erectile dysfunction or decreased libido.
  • Frequent bowel movements.
  • Graves' ophthalmopathy. Inflammation of the tissues surrounding the eye that may cause the eye to bulge out of its socket.
  • Fatigue.
  • Graves', pretibial or myxedema dermopathy. Thickening of the skin with a reddish appearance on the front of the shins and rarely on the feet.
  • Cardiac palpitations.
  • Sleep disturbances.

Prevention

Graves' disease can only be prevented to a limited extent since this disorder has an origin over which we have no influence. Some of these recommendations include avoiding or reducing stressful situations as much as possible, quitting smoking, limiting alcohol consumption, and following a balanced diet with regular physical exercise.

Number of observed variants

13.5 million variants

Number of risk loci analyzed in the study

22 loci

Bibliography

Rare Disease Database (NORD) [March 2022]

American Thyroid Association [March 2022]

Mayo Clinic [March 2022]

Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nat Genet 2021; 53: 1415–1424.

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