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Gout, Genetic Testing

Gout is a form of arthritis characterized by the accumulation of uric acid crystals in the joints, leading to inflammation and severe pain, usually in the big toe. Gout is often linked to lifestyle factors such as diet and excessive alcohol consumption. Medications, lifestyle changes, and dietary modifications are used to manage gout and prevent recurrent attacks. The assessment of the Polygenic Risk Score for gout is based on the examination of 22 gene polymorphisms.

Genetic testing for gout is included along with 11 other diseases in the Genetic Screening for Musculoskeletal Diseases, Polygenic Risk Score.

Causes and non-genetic risk factors

Gout is caused by the appearance of urate crystals in the joint, which causes inflammation and pain. The formation of these crystals is caused by increased levels of uric acid in the blood, a product of the breakdown of purines, naturally present in the body and in many foods.

Among the risk factors associated with gouty disease are:

  • Diet. Excessive consumption of foods rich in purines, such as red meat, seafood, sugary drinks, or alcohol, significantly increases the risk of suffering from the disease
  • In overweight people, the body produces more uric acid, and the kidneys have less capacity to eliminate it
  • Untreated medical conditions, such as hypertension, diabetes, obesity, or kidney disease
  • 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 likely to suffer from it, although, after menopause, women's risk becomes equal to that of men
Symptoms

Gout produces arthritis (joint inflammation) almost always acutely and in a single joint, which can become intensely inflamed in a few hours. When the joint becomes inflamed, it swells, its surface can become reddened, and it almost always becomes intensely painful so that mobility can be affected by the pain itself. Sometimes, the inflammation may be less intense and the discomfort more bearable.

Gout attacks can occur in various joints, but the most common are those of the big toe (podagra attacks), instep, ankle, knee, wrist, or some joints of the fingers of the hand.

Prevention

Gout is a largely preventable disease, mainly by avoiding risk factors. The recommended actions are the following:

  • Maintain a healthy weight. Obese people are more prone to suffering gout attacks
  • Eat a healthy diet, avoiding red meat, seafood, and oily or blue fish and favoring fruits and vegetables
  • Avoid consumption of alcohol and carbonated beverages
  • Keep reasonable health control, especially for pathologies such as hypertension, diabetes, or heart disease
Additional information
Results Time4 - 5 Weeks
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