Frequency, diagnosis, pathogenesis and management of osteoporosis in alkaptonuria: data analysis from the UK National Al
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ORIGINAL ARTICLE
Frequency, diagnosis, pathogenesis and management of osteoporosis in alkaptonuria: data analysis from the UK National Alkaptonuria Centre L. R. Ranganath 1,2 & M. Khedr 1 & S. Vinjamuri 3 & J. A. Gallagher 2 Received: 13 July 2020 / Accepted: 5 October 2020 # International Osteoporosis Foundation and National Osteoporosis Foundation 2020
Abstract Summary Osteoporosis and fractures are common features of alkaptonuria. Introduction A large cohort of alkaptonuria (AKU) patients was studied to better recognise and characterise osteoporosis and fractures in AKU. Methods Assessments including questionnaire analysis, DEXA and CT densitometry at the neck of femur (FN), total hip (TH) and lumbar spine (LS) were performed on patients at baseline when 2 mg nitisinone was commenced, and yearly thereafter. Blood and urine samples were collected for chemical measurement. CT BMD Z-scores were generated. Results Between June 2007 and March 2020, 87 AKU patients attended the NAC. At baseline, there were 48 fractures in 39 patients. Prevalence of osteoporosis was 3.1 at FN, 10.8 at TH and 24.7% at LS respectively. Prevalence of fragility fractures was greatly increased at 44.8%. The group with fractures showed increased ochronosis scores (p < 0.05). CT LS showed an inverse relationship with fractures (R = − 0.28; p < 0.05). CT LS was significantly lower in the fracture group (p < 0.002). Following nitisinone only, CT FN and CT TH decreased significantly (p < 0.05 and 0.01 respectively). Following nitisinone plus antiresorptive therapy, CT FN, CT TH and CT LS all increased significantly (p < 0.05, 0.05 and 0.001 respectively). However, patients on nitisinone plus antiresorptive had more fractures than nitisinone and no-treatment groups (p < 0.05). Conclusions Osteopenia and fragility fractures are common in AKU.. Anti-resorptive therapy increased BMD in AKU without decreasing fragility fractures. Bone densitometry measurements by DXA are less reliable than quantitative CT at the LS in AKU. Keywords Alkaptonuria . Antiresorptive therapy . CTBMD . Fractures . Nitisinone . Osteoporosis . Z-scores
Abbreviations AKU Alkaptonuria HGA Homogentisic acid sHGA Serum homogentisic acid Electronic supplementary material The online version of this article (https://doi.org/10.1007/s00198-020-05671-y) contains supplementary material, which is available to authorized users. * L. R. Ranganath [email protected] 1
Departments of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8XP, UK
2
IACD, University of Liverpool, William Henry Duncan Building, West Derby Street, Liverpool L7 8TX, UK
3
Nuclear Medicine, Royal Liverpool University Hospital, Prescot Street, Liverpool L7 8XP, UK
uHGA24 25OHD CTX PINP NOF HIP L2–L4 FT4 NAC
24-h urine homogentisic acid 25-Hydroxyvitamin D Carboxy-terminal cross-linked telopeptide of type 1 collagen Procollagen type 1 amino-peptide propeptide CT BMD neck of femur CT BMD total hip CT BMD L2–L4 Free thyroxine National Alkaptonuria Centre
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