Results of Genetic Diagnosis and FRAX Model vs Results of DEXA (1-0)

Case Report

Volume 5, Issue 2 (February Issue)

Results of Genetic Diagnosis and FRAX Model vs Results of DEXA 1-0

Eiman Shahrour^1*, Bassel Al-Halabi², Walid Al-Achkar², Abd Alrazak Hassan³ and Haissam Yazigi⁴

¹Department of Biochemistry and Microbiology, Faculty of Pharmacy, Tishreen University, Ministry of High Education, Lattakia, Syria

²Department of Molecular Biology and Biotechnology, Human Genetics Division, Atomic Energy Commission, Damascus, Syria

³Department of Internal Medicine, Faculty of Medicine, Tishreen University, Ministry of High Education, Lattakia, Syria

⁴Department of Laboratory Diagnosis, Faculty of Medicine, Tishreen University, Ministry of High Education, Lattakia, Syria

^*Corresponding author: Eiman Shahrour, Department of Biochemistry and Microbiology, Faculty of Pharmacy, Tishreen University, Ministry of High Education, Lattakia, Syria. E-mail: eimanm.shahrour@gmail.com

Received: December 17, 2022; Accepted: January 05, 2023; Published: January 15, 2023

Citation: Shahrour E, Al-Halabi B, Al-Achkar W, et al. Results of Genetic Diagnosis and FRAX Model Vs Results of DEXA (1-0). Clin Image Case Rep J. 2023; 5(1): 293.

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Abstract

Objectives: The definition, diagnosis and treatment plans for osteoporosis and osteopenia are defined on the basis of assessment of bone mineral density by dual-band X-ray absorptiometry. However, this method faces many limitations and challenges. The main difficulty in assessing fracture risk is that while this threshold is High passivity, but low sensitivity, so that the majority of fragility fractures occur in individuals with BMD values above the osteoporotic threshold. These limitations necessitated the search for alternative solutions of better quality, including radiological, genetic, and applications of more risk factors in the fracture risk assessment (FRAX). In fact, FRAX was more consistent with the clinical diagnosis than DEXA. Genetic diagnosis has not been decided yet, but it has a clear role. But the matter is not settled so far, and the clinical diagnosis remains the reference standard for diagnosis and therapeutic intervention, and FRAX is an aid to confirm this diagnosis. The genetic factor is an important factor.

Methods: This study includes two clinical cases from Tishreen University Hospital patients. Clinical history was taken. DEXA imaging, genetic diagnosis-LRP5rs121908669, COL1A2rs72658152 mutations were analyzed by RFLP, DNA sequencing-, FRAX application were applied.

Results: The results of DEXA conflict with the clinical diagnosis, while the results of FRAX agree with the clinical diagnosis. This requires more studies for comparing the results of FRAX with the results of DEXA on a larger scale of samples. Genotypes of LRP5G171R agree with the FRAX results but vary with DEXA radiographic findings.

Conclusion: FRAX application results are more compatible with genetic and clinical diagnosis than radiographic diagnosis DEXA.

Keywords: FRAX; DEXA; T-score; Challenges of assessment osteoporosis; Genetics in osteoporosis; LR5G171R genotypes