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Knee Osteoarthritis, Genetic Testing

Osteoarthritis of the knee is a form of osteoarthritis that affects the knee joint, resulting in pain, swelling, and difficulty moving. Treatment approaches may include pain management, exercise, and, in severe cases, knee replacement surgery. The assessment of the Polygenic Risk Score for osteoarthritis of the knee is based on the examination of 11 gene polymorphisms.

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

Causes and non-genetic risk factors

Knee osteoarthritis results from articular cartilage degeneration, the cause of which is currently unknown. It is usually considered age-related wear and tear, but also to the disease condition itself since there are differences in the cartilages of osteoarthritis and aging. In addition, there is an elevated expression of enzymes responsible for cartilage degradation in knee osteoarthritis compared to typical values in normal aging.

However, in addition to an inherited tendency to develop knee osteoarthritis or specific hereditary characteristics such as bow leggedness, knock knees, or joint laxity, several additional factors may contribute to an increased risk of developing knee osteoarthritis:

  • Age: The risk increases with advancing years, although it usually appears after age 40
  • Gender: Women are more prone to this, although the reason is unknown
  • Overweight or obesity: A body mass index (BMI) of 30 or more is a significant risk factor, increasing the likelihood of knee osteoarthritis by up to 7 times given the added stress on the joints. In addition, fat tissue produces proteins that can cause inflammation in and around the joints
  • Knee injuries, joint deviations or deformities
  • Frequent overloading of the knee in a work or sports context
  • Diseases: Gout, rheumatoid arthritis, metabolic pathologies such as hemochromatosis due to iron deposition in the joints, or growth hormone overproduction defects can increase the risk of this disease
Symptoms

Symptoms of osteoarthritis often develop slowly and worsen over time. Pain is the most common symptom of knee osteoarthritis at motion and rest. Additionally, other possible symptoms that may occur include:

  • Stiffness, locking, or tenderness of the joint, especially after a long period without motion
  • Loss of joint flexibility
  • Swelling, warmth, or inflammation of the knee
  • Presence of hard lumps (osteophytes) around the joint
  • Clicking or popping during movement
  • Weakness of the joint in an upright state
Prevention

Although osteoarthritis of the knee cannot always be prevented, some measures may help reduce the risk of developing it:

  • Maintain a healthy weight
  • Rest and seek at least 6-8 hours of sleep each day
  • Incorporate strength exercises as much as possible to strengthen the muscles in the area and reduce wear and tear on the joint itself
  • Limit the impact of physical exercise on the knee by performing exercises such as swimming or cycling. When jogging or running, do it on grass or soft ground and avoid compact surfaces
Additional information
Results Time4 - 5 Weeks
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