Rare Osteoporotic Fractures

What are Rare Osteoporotic Fractures?

Osteoporosis is a condition characterized by reduced bone density and weakened bones, making the body more prone to fractures. While osteoporosis typically affects older individuals—especially postmenopausal women—there are cases of rare osteoporotic fractures caused by genetic mutations that can impact bone development and health. Individuals identified as high genetic risk through this test may have up to a 55% increased risk of fractures.

Genes Analyzed in the Genetic Test

The genetic test examines 500 genetic loci to determine the risk of developing rare osteoporotic fractures. Key genes include:

• COL1A1/COL1A2: These genes encode type I collagen chains, which are essential components of bone structure. Mutations can lead to rare forms of osteoporosis, such as osteogenesis imperfecta, where bones become extremely fragile.
• LRP5: This gene codes for a protein involved in regulating bone density. Certain mutations in LRP5 are associated with an increased risk of rare osteoporotic fractures.
• SOST: This gene plays a role in regulating bone density. Specific mutations may result in rare and severe osteoporotic fractures due to reduced bone resistance.
• VDR (Vitamin D Receptor): Involved in calcium absorption and bone health, mutations in this gene can affect bone strength and contribute to the risk of rare fractures.

Why Choose Genetic Testing for Rare Osteoporotic Fractures?

• Risk Assessment:
  The test provides an evaluation of the genetic risk for rare osteoporotic fractures, identifying those who are most vulnerable.
• Personalized Management:
  Understanding your genetic predisposition can lead to personalized preventive measures, such as increased intake of vitamins, calcium supplementation, or targeted physical activity to strengthen bones.
• Early Diagnosis and Intervention:
  Detecting rare genetic variations allows for early diagnosis and intervention through medication or preventive care, potentially reducing the risk of fractures.

By choosing this genetic test, you gain valuable insights that can guide personalized strategies to prevent and manage the risk of rare osteoporotic fractures, ultimately contributing to better bone health and quality of life.