核心概念
Prophylactic treatment with zoledronic acid in high-risk individuals can prevent Paget disease progression.
要約
The study highlights the effectiveness of genetic screening and zoledronic acid treatment in preventing Paget disease progression. Here is a breakdown of the key points:
Introduction:
- Zoledronic acid (ZA) can prevent Paget disease of the bone (PDB) in high-risk individuals.
- Genetic screening is crucial for individuals with a familial history of PDB.
Disease Overview:
- PDB is a chronic skeletal growth disorder affecting millions in the US.
- Symptoms may not appear until late stages, leading to irreversible skeletal damage.
Genetic Influence:
- Pathogenic variants of SQSTM1 gene play a significant role in PDB.
- Early interventions in high-risk individuals may halt disease progression.
Study Details:
- Over 1400 individuals with PDB underwent genetic testing for SQSTM1 variants.
- Participants received ZA or placebo treatment and were followed up for 7 years.
Results:
- ZA group showed significant improvement in bone lesions compared to the placebo group.
- ZA treatment led to a reduction in bone resorption markers.
Conclusion:
- Genetic screening and ZA treatment can be beneficial for individuals with a family history of PDB.
- Further research is needed to determine the best approach for treatment.
統計
An estimated 40%-50% of people with a familial history of PDB have pathogenic SQSTM1 variants.
29 lesions were found in the placebo group, compared to 15 in the ZA group.
Odds ratio for poor outcomes was 0.08 in the ZA group compared to the placebo group.
引用
"If it's positive, you should be able to have a bone scan and take it from there." - Stuart Ralston
"The bone scan reversal of abnormalities was amazing." - Stuart Ralston
"Now, it seems like [the test] is fairly easily available, so probably it's something we can begin to incorporate into our armamentarium." - Linda Russell