Gout

Gout, or gouty arthritis, is a condition caused by an increase in uric acid levels in the blood (hyperuricemia), leading to the accumulation of urate crystals in a joint, which causes sudden inflammation and pain. The most affected joint is the first metatarsophalangeal joint of the foot. Its prevalence is approximately 1% in developed countries.

The cause of gout is the presence of urate crystals in the joint, which causes inflammation and pain. The formation of these crystals occurs due to increased levels of uric acid in the blood, a product of the breakdown of purines, which are substances naturally found in the body and many foods.

Risk factors associated with gout include:

  • Diet. Excessive consumption of purine-rich foods such as red meat, seafood, sugary drinks, or alcohol significantly increases the risk of developing the disease.
  • In overweight individuals, the body produces more uric acid, and the kidneys have a reduced ability to eliminate it.
  • Untreated medical conditions, such as hypertension, diabetes, obesity, or kidney diseases.
  • Certain medications, such as some diuretics, hypertension drugs, or beta-blockers.
  • It tends to develop between the ages of 30 and 50.
  • Men are more prone to developing gout, although after menopause, the risk for women equals that of men.

Symptoms

Essentially, gout causes arthritis (joint inflammation), almost always acutely and in a single joint, which can become intensely inflamed within a few hours. When the joint becomes inflamed, it swells, its surface may turn red, and it almost always becomes intensely painful, which can affect mobility due to the pain itself. Sometimes, the inflammation can be less intense, and the discomfort more manageable.

The joints where gout attacks can occur are varied, but the most common are the big toe (referred to as podagra attacks), the instep, ankle, knee, wrist, or some joints of the fingers.

Prevention

Gout is a largely preventable disease by mainly avoiding risk factors. The recommended actions are as follows:

  • Maintain a healthy weight. Obese individuals are more prone to gout attacks.
  • Follow a healthy diet, avoiding the consumption of red meats, seafood, fatty or oily fish, and favoring the intake of fruits and vegetables.
  • Avoid alcohol and carbonated beverages.
  • Maintain good health control, especially for conditions like hypertension, diabetes, or heart disease.

Number of observed variants

13.5 million variants

Number of risk loci

22 loci

Genes analyzed

ABCG2 ADH1B ARID1A DPM3 GCKR IDH2 INHBE KLB LRP2 MLXIP MLXIPL NFAT5 NKAPL NRG4 PNPLA3 PRKAG2 RNF115 RREB1 SFMBT1 SH2B3 SLC16A9 SLC17A1 SLC22A11 SLC22A12 SLC2A9 SWAP70 TMEM171

Bibliography

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