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Osteoporosis, Genetic Testing

Osteoporosis is characterized by weakened bones, leading to an increased risk of fractures. It often occurs in postmenopausal women and older adults. Treatment includes drugs to strengthen bones, calcium and vitamin D supplements, and lifestyle changes to reduce fracture risk. The assessment of the Polygenic Risk Score for osteoporosis is based on the examination of 7 gene polymorphisms.

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

Causes and non-genetic risk factors

Bones are in a constant state of renewal. During youth, the development of new bone is faster than its degradation, so bone mass increases. But as we age, bone mass is lost faster than created. Based on this, the development of osteoporosis will depend, among other factors, on the maximum bone mass reached, which is partly determined by heredity and ethnicity. In addition, several other categories of risk factors may influence the likelihood of developing osteoporosis:

Non-modifiable factors

  • Advanced age. Although it can also appear at younger ages.
  • Gender. Women are much more prone, mainly when estrogen levels decrease, early menopause or hysterectomy, especially if ovaries are also removed before age 45, also by the absence of menses for more than 6 months as a result of excessive exercise or excessive diet.
  • Levels of certain hormones. Sex hormones, specifically estrogens in women with menopause, hormonal treatment in estrogen-dependent breast cancer, or testosterone in men in the treatment of prostate cancer. Hyperthyroidism or excess of thyroid hormone in the treatment of hypothyroidism. Hyperactivity of the parathyroid and adrenal glands.
  • Asian or non-Hispanic Caucasian ethnicity.
  • Small bone structure given the availability of less bone mass.
  • Previous fractures due to minor injuries, especially after age 50, or family history, mainly if hip fractures are present.

Modifiable factors

  • Eating disorders such as anorexia nervosa and bulimia restrict food intake, as well as gastrointestinal surgery that limits the amount of surface area available to absorb nutrients.
  • Smoking and excessive alcohol consumption.
  • Low calcium and vitamin D levels provided from the diet since adolescence or inadequate absorption.
  • Sedentary lifestyle or immobility such as prolonged bed rest.

Other bone diseases

  • Endocrine diseases: hyperthyroidism, hyperparathyroidism, Cushing's disease, etc.
  • Inflammatory arthritis, inflammatory bowel disease, celiac disease, kidney or liver disease, neoplasms, etc.

Consumption of drugs

Long-term glucocorticoids, heparin, anticonvulsants, immunosuppressants, antineoplastics.

Symptoms

There are usually no symptoms in the early stages. Once the bones are weakened, the following signs and symptoms may occur:

  • Back pain is caused by a fractured or crushed vertebra
  • Loss of height over time
  • A stooped posture
  • Painful joints or stiffness
  • A bone that breaks much more quickly than expected after a minor injury
Prevention

Lifestyle changes related to diet and physical exercise are the most recommended measures in the prevention of osteoporosis:

  • Ensure appropriate calcium intake through diet (dairy products, dark leafy vegetables, nuts, orange juice) or supplements if necessary. Between the ages of 18 and 50, 1000 milligrams per day. This amount increases to 1200 milligrams for women from age 50 and men from age 70. It is recommended not to exceed 2000 milligrams per day for those over 50.
  • Ensure the appropriate Vitamin D intake necessary to promote calcium absorption. It is obtained from exposure to sunlight and foods such as oily fish, red meat, egg yolks, and liver. The recommended intake is at least 600 IUI per day, and from 70 years of age, 800 IU per day. Supplements can be used if necessary.
  • Stop smoking and limit alcohol consumption.
  • Exercise regularly for at least 30 minutes daily, including strength training, to strengthen bones and muscles and slow bone loss. Exercise that improves balance can also help prevent falls.
  • Try to plan strategies to avoid falls as much as possible.
Additional information
Results Time4 - 5 Weeks
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