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Spot the silent sufferers: A call for clinical diagnostic criteria for solar and nutritional osteomalacia.
J Steroid Biochem Mol Biol 2019; 188:141-146JS

Abstract

Osteomalacia and rickets result from defective mineralization when the body is deprived of calcium. Globally, the main cause of osteomalacia is a lack of mineral supply for bone modeling and remodeling due to solar vitamin D and/or dietary calcium deficiency. Osteomalacia occurs when existing bone is replaced by unmineralized bone matrix (osteoid) during remodeling in children and adults, or when newly formed bone is not mineralized in time during modeling in children. Rickets occurs when hypomineralization affects the epiphyseal growth plate chondrocytes and adjacent bone metaphysis in growing children. Hence, osteomalacia co-exists with rickets in growing children. Several reports in the last decade highlight the resurgence of so-called "nutritional" rickets in the dark-skinned population living in high-income countries. However, very few studies have ever explored the hidden iceberg of nutritional osteomalacia in the population. Rickets presents with hypocalcaemic (seizures, tetany, cardiomyopathy), or hypophosphataemic complications (leg bowing, knock knees, rachitic rosary, muscle weakness) and is diagnosed on radiographs (cupping and fraying of metaphyses). In contrast, osteomalacia lacks distinctive, non-invasive diagnostic laboratory or imaging criteria and the clinical presentation is non-specific (general fatigue, malaise, muscle weakness and pain). Hence, osteomalacia remains largely undiagnosed, as a hidden disease in millions of dark-skinned people who are at greatest risk. Radiographs may demonstrate Looser's zone fractures in those most severely affected, however to date, osteomalacia remains a histological diagnosis requiring a bone biopsy. Biochemical features of high serum alkaline phosphatase (ALP), high parathyroid hormone (PTH) with or without low 25 hydroxyvitamin D (25OHD) concentrations are common to both rickets and osteomalacia. Here, we propose non-invasive diagnostic criteria for osteomalacia. We recommend a diagnosis of osteomalacia in the presence of high ALP, high PTH, low dietary calcium intake (<300 mg/day) and/or low serum 25OHD (<30 nmol/L). Presence of clinical symptoms (as above) or Looser's zone fractures should be used to reaffirm the diagnosis. We call for further studies to explore the true prevalence of nutritional osteomalacia in various populations, specifically the Black and Asian ethnic groups, in order to identify the hidden disease burden and inform public health policies for vitamin D/calcium supplementation and food fortification.

Authors+Show Affiliations

Department of Diabetes and Endocrinology, Birmingham Women's and Children's Hospital, Birmingham, UK; Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK.Institute of Metabolism and Systems Research, University of Birmingham, Birmingham, UK; Department of Paediatrics and Adolescent Medicine, Johannes Kepler University, Linz, Austria. Electronic address: Wolfgang.hoegler@jku.at.

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

30654108

Citation

Uday, Suma, and Wolfgang Högler. "Spot the Silent Sufferers: a Call for Clinical Diagnostic Criteria for Solar and Nutritional Osteomalacia." The Journal of Steroid Biochemistry and Molecular Biology, vol. 188, 2019, pp. 141-146.
Uday S, Högler W. Spot the silent sufferers: A call for clinical diagnostic criteria for solar and nutritional osteomalacia. J Steroid Biochem Mol Biol. 2019;188:141-146.
Uday, S., & Högler, W. (2019). Spot the silent sufferers: A call for clinical diagnostic criteria for solar and nutritional osteomalacia. The Journal of Steroid Biochemistry and Molecular Biology, 188, pp. 141-146. doi:10.1016/j.jsbmb.2019.01.004.
Uday S, Högler W. Spot the Silent Sufferers: a Call for Clinical Diagnostic Criteria for Solar and Nutritional Osteomalacia. J Steroid Biochem Mol Biol. 2019;188:141-146. PubMed PMID: 30654108.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Spot the silent sufferers: A call for clinical diagnostic criteria for solar and nutritional osteomalacia. AU - Uday,Suma, AU - Högler,Wolfgang, Y1 - 2019/01/14/ PY - 2018/09/02/received PY - 2019/01/02/revised PY - 2019/01/12/accepted PY - 2019/1/18/pubmed PY - 2019/5/22/medline PY - 2019/1/18/entrez KW - Biopsy KW - Bone modeling KW - Bone turnover KW - Malnutrition KW - Micronutrient KW - Nutrition KW - Osteomalacia KW - Osteoporosis KW - Remodeling KW - Rickets SP - 141 EP - 146 JF - The Journal of steroid biochemistry and molecular biology JO - J. Steroid Biochem. Mol. Biol. VL - 188 N2 - Osteomalacia and rickets result from defective mineralization when the body is deprived of calcium. Globally, the main cause of osteomalacia is a lack of mineral supply for bone modeling and remodeling due to solar vitamin D and/or dietary calcium deficiency. Osteomalacia occurs when existing bone is replaced by unmineralized bone matrix (osteoid) during remodeling in children and adults, or when newly formed bone is not mineralized in time during modeling in children. Rickets occurs when hypomineralization affects the epiphyseal growth plate chondrocytes and adjacent bone metaphysis in growing children. Hence, osteomalacia co-exists with rickets in growing children. Several reports in the last decade highlight the resurgence of so-called "nutritional" rickets in the dark-skinned population living in high-income countries. However, very few studies have ever explored the hidden iceberg of nutritional osteomalacia in the population. Rickets presents with hypocalcaemic (seizures, tetany, cardiomyopathy), or hypophosphataemic complications (leg bowing, knock knees, rachitic rosary, muscle weakness) and is diagnosed on radiographs (cupping and fraying of metaphyses). In contrast, osteomalacia lacks distinctive, non-invasive diagnostic laboratory or imaging criteria and the clinical presentation is non-specific (general fatigue, malaise, muscle weakness and pain). Hence, osteomalacia remains largely undiagnosed, as a hidden disease in millions of dark-skinned people who are at greatest risk. Radiographs may demonstrate Looser's zone fractures in those most severely affected, however to date, osteomalacia remains a histological diagnosis requiring a bone biopsy. Biochemical features of high serum alkaline phosphatase (ALP), high parathyroid hormone (PTH) with or without low 25 hydroxyvitamin D (25OHD) concentrations are common to both rickets and osteomalacia. Here, we propose non-invasive diagnostic criteria for osteomalacia. We recommend a diagnosis of osteomalacia in the presence of high ALP, high PTH, low dietary calcium intake (<300 mg/day) and/or low serum 25OHD (<30 nmol/L). Presence of clinical symptoms (as above) or Looser's zone fractures should be used to reaffirm the diagnosis. We call for further studies to explore the true prevalence of nutritional osteomalacia in various populations, specifically the Black and Asian ethnic groups, in order to identify the hidden disease burden and inform public health policies for vitamin D/calcium supplementation and food fortification. SN - 1879-1220 UR - https://www.unboundmedicine.com/medline/citation/30654108/Spot_the_silent_sufferers:_A_call_for_clinical_diagnostic_criteria_for_solar_and_nutritional_osteomalacia L2 - https://linkinghub.elsevier.com/retrieve/pii/S0960-0760(18)30542-9 DB - PRIME DP - Unbound Medicine ER -