Polygenic score
Influential genes: NON-CODING
Variations in the GCKR gene have been found to be associated with increased levels of uric acid in the blood, which is the main risk factor for developing gout.
Studies have identified an association between variations in the A1CF gene and gout susceptibility.
This condition is typically associated with increased levels of uric acid in the blood, which tend to deposit in joints and surrounding tissues to cause “gouty” flares. It is the most common type of arthritis characterized by acute attacks of severe joint pain. It also affects the overlying skin. The episodes are typically acute and last only days to weeks, otherwise being asymptomatic most of the time. It usually follows triggers, such as trauma, dehydration, or consuming a large amount of purine-rich foods that significantly increase uric acid levels. During these flares, the overlying skin appears red, hot and swollen on the affected joint. It rarely progresses to a chronic state characterized by the formation of multiple painless hard nodules called tophi, known to cause progressive joint destruction.
It is estimated that men around 30-50 years old are 4-10 times more likely to have gout than women. Therefore, the significant risk factors include:
Genetic factors make up a significant portion of risk factors, especially when involved in enzyme defects of the purine metabolism, e.g., Lesch-Nyhan syndrome. High alcohol consumption combines uric acid overproduction and decreased excretion.
A combination of both genetic and environmental factors is seen in this disease.
Lesch-Nyhan syndrome is a genetic condition known to cause an overproduction of uric acid and is highly connected to gout. It is defined by an enzymatic defect in the purine metabolism and inherited in an X-linked recessive fashion.
Gout is associated with acute attacks triggered by a sudden increase in uric acid or following trauma, dehydration, or diuresis (increased urine flow). The episodes start with acute severe pain with overlying erythema, swelling, and warmth and most likely occur at night, peaking after 12-24h of the initial symptoms. The most typical site is the metatarsophalangeal joint (MTP), the big toe. The affected person is asymptomatic for most years but rarely can progress to the chronic stage where multiple painless hard nodules called tophi develop in bone and soft tissue. Eventually, this leads to progressive joint destruction.
The analysis of synovial fluid is the mainstay of diagnosis following arthrocentesis. Laboratory studies such as determining uric acid serum and urine levels help confirm the diagnosis.
There is no known cure, but lifestyle modifications help reduce the likelihood of these events. General measures to reduce these attacks are mostly based on the following lifestyle modifications:
Pharmacotherapy is casually needed when a severe attack occurs or when chronic gout settles. Rest and ice on the affected joint are sufficient during an acute flare in mild cases. In severe cases, glucocorticoids, NSAIDs, or colchicine are usually prescribed.
Chronic gout urate-lowering therapy is different from the one used in acute attacks. Beware that this medication can worsen an acute flare.
Lifestyle modifications are effective in preventing gout. To reduce the risk of flares, limit your alcohol consumption, the intake of purines found in red meat and shellfish, limit high-fructose syrups seen in sugary foods, juices, and non-diet sodas, and lose weight if overweight.
Acute attacks are self-limiting and resolve within 1-2 weeks. These tend to recur within one year. Untreated patients will likely develop chronic gout, and can permanently damage their joints, leading to a loss in the range of motion.
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