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Low bone mineral density is a common finding in patients with homocystinuria
David R Weber1, Curtis Coughlin2, Jill L Brodsky3
1University of Rochester School of Medicine and Dentistry, 601 Elmwood Ave, Box 690, Rochester, NY 14642, United States.
Insights
Homocystinuria (HCU) is linked to low bone mineral density (BMD) in children and adults. Early assessment of bone health is crucial for managing this rare metabolic disorder.
Area of Science:
- Biochemistry
- Metabolic Disorders
- Bone Health
Background:
- Homocystinuria (HCU) results from cystathionine beta-synthetase deficiency, causing elevated homocysteine and methionine.
- HCU is associated with developmental delay, intellectual impairment, ocular defects, thromboembolism, and skeletal abnormalities.
- The bone disease natural history in HCU patients remains poorly understood, despite some studies suggesting an increased osteoporosis risk.
Purpose of the Study:
- To characterize bone mineral density (BMD) in a multi-center cohort of individuals with Homocystinuria (HCU).
- To assess BMD using dual-energy X-ray absorptiometry (DXA) in both pediatric and adult HCU patients.
Main Methods:
- Retrospective analysis of DXA scan data from 19 HCU patients (ages 3.5-49.2 years) collected between 2002-2010.
- Calculation of lumbar spine (LS) BMD Z-scores.
- Multiple linear regression models were used to explore associations between biochemical markers and BMD.
Main Results:
- The mean LS BMD Z-score was -1.2 (±1.3 SD).
- 38% of participants exhibited low BMD for their age (Z-score ≤-2).
- Elevated homocysteine and methionine levels showed a positive association with LS BMD Z-scores.
Conclusions:
- Low bone mineral density is prevalent in both children and adults with Homocystinuria.
- Routine bone health assessment is recommended for HCU patients.
- Further research is necessary to elucidate the precise relationship between HCU and BMD.
Abstract:
Homocystinuria (HCU) due to deficiency of cystathionine beta-synthetase is associated with increased plasma levels of homocysteine and methionine and is characterized by developmental delay, intellectual impairment, ocular defects, thromboembolism and skeletal abnormalities. HCU has been associated with increased risk for osteoporosis in some studies, but the natural history of HCU-related bone disease is poorly understood. The objective of this study was to characterize bone mineral density (BMD) measured by dual energy X-ray absorptiometry (DXA) in a multi-center, retrospective cohort of children and adults with HCU. We identified 19 subjects (9 males) aged 3.5 to 49.2 years who had DXA scans performed as a part of routine clinical care from 2002-2010. The mean lumbar spine (LS) BMD Z-score at the time of first DXA scan in this cohort was -1.2 (± SD of 1.3); 38% of participants had low BMD for age (as defined by a Z-score ≤-2). Homocysteine and methionine were positively associated with LS BMD Z-score in multiple linear regression models. Our findings suggest that low BMD is common in both children and adults with HCU and that routine assessment of bone health in this patient population is warranted. Future studies are needed to clarify the relationship between HCU and BMD.
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