Background Homocystinuria is an inborn error of metabolism associated with elevated plasma and urine homocysteine levels. Osteoporosis is a recognised feature of the disease and is thought to be related to defective collagen cross-linkage. Limited data exists, however, concerning levels of bone health in unselected patients with homocystinuria.
Objectives The aim of this analysis was to determine the prevalence of osteoporosis in a cohort of adult homocystinuria patients.
Methods 46 adult homocystinuria patients, mean age 36.9 years, (Standard deviation [SD]=12.9) attending a specialist metabolic medicine clinic at Salford Royal Hospital NHS Trust (Salford, United Kingdom) were identified and retrospective analysis of their medical records performed. Information obtained included data on previous medications, and bone mineral density (BMD) scans which had been performed using Dual energy x-ray absorptiometry (DEXA). Also, when available information about plasma homocysteine levels was obtained.
Results 78% of patients (n=36) had had at least one DEXA scan. The mean lumbar spine BMD Z-score was -0.51 (SD=1.20) and for the total hip site, mean Z-score was -0.36 (SD=1.40). Mean level of plasma homocysteine was 96.6 μmol/Litre (normal range: <16μmol/Litre), (SD=69.7). Using the International Society of Clinical Densitometry (ISCD) criteria (Z-score < -2.0), five (10.9%) patients had evidence of osteoporosis; while using the World Health Organisation (WHO) criteria (T-score < -2.5), only three (6.5%) patients had evidence of osteoporosis. There was no association between either total hip or lumbar spine BMD Z-score and levels of plasma homocysteine.
Conclusions In this cohort of patients with homocystinuria attending hospital clinics, the prevalence of osteoporosis was relatively low.
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J Clin Densitom. 2014; 17: 219–224.
Acknowledgement Ms.Azita Rajai, Statistician, Manchester Biomedical Centre, Central Manchester NHS Foundation Trust, Manchester, United Kingdom
Disclosure of Interest None declared
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