AB0772 Prevelance of Osteoporosis in Adult Homocystinuria Patients. (15th July 2016)

• Record Type: Journal Article
• Authors: Mohamed Sathathulla, A.; O'Neill, T.; Sharma, R.
• Is Part Of: Annals of the rheumatic diseases. Volume 75(2016)Supplement 2
• Page Start: 1168
• Page End: 1168
• Publication Date: 2016-07-15
• Subjects: Rheumatism -- Periodicals; 616.723005
• DOI: 10.1136/annrheumdis-2016-eular.2989
• Languages: English
• ISSNs: 0003-4967

Abstract

Abstract : 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. References: Ortop Traumatol Rehabil. 2007 Jul-Aug; 9(4): 337–56. 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