Assessment of Bone Mineral Density in Patients Undergoing Hemodialysis; An Iranian Population-Based Study

Background: End-stage renal disease (ESRD) is a condition in which bone turnover and metabolism is impaired; thus, osteoporosis and low bone density are subsequently inevitable. We aimed to determine bone mineral density (BMD) and biochemical markers, and associated factors in hemodialysis (HD) patients. Methods: Patients aged 30-70 years undergoing HD between 2015 to 2019 were enrolled in this cross-sectional study. BMD measured by dual energy x-ray absorptiometry (DEXA) and biochemical laboratory tests were assessed in 200 patients undergoing HD. Statistical analysis was based on t test, Pearson, regression and Mann-Whitney tests using SPSS 16. Results: Two hundred patients were investigated. Sixty percent of the patients were female. Mean ± SD of participants’ age was 58.6 (±11.63) years and mean ± SD for duration of HD was 45.69 (± 43.76) months. Osteoporosis was found in 48% (n=96) and low bone density in 36% (n=76) of our patients. General osteoporosis was more frequent in those undergoing HD for more than 3 years, although not significantly (P=0.093, odds ratio [OR]=0.37). However, regional osteoporosis in hip and femoral neck, but not spine vertebrae, were significantly higher after three years of HD (P=0.036, OR=0.27; P=0.042, OR=0.27; and P=0.344, OR=0.56, respectively). Increased body mass index (BMI) correlated negatively with osteoporosis (P=0.050). Conclusion: With increasing age and duration of HD, BMD decreases. Higher BMI was associated with higher bone mass density. Bone density assessment seems to be necessary in patients undergoing HD.

Electronic Medical Record and Clinical Evaluation of Two Patient Cohorts at Risk of Hypophosphatasia: Family History is an Underutilized Tool to Diagnose Patients with Rare Disease (Preprint)

BACKGROUND Family history (FH) is a powerful tool in screening and testing for chronic disease, oncologic conditions, and other genetic diagnoses, and is dependent upon observing patterns of features inherited across generations. Despite acceptance of FH as a fundamental part of a genetic medicine evaluation, there are limited data in other medical fields about its utility and benefit to patients. To date, there are no published data pertaining to the clinical utility of FH to diagnose individuals with hypophosphatasia (HPP), a rare genetic low bone density condition. OBJECTIVE To compare FH recorded in the electronic medical record (EMR) of patients at risk of HPP before a genetic medicine encounter to that learned during that clinical evaluation. METHODS We evaluated two patient populations at-risk of a rare metabolic condition-- hypophosphatasia (HPP)—for the quality and quantity of FH data in their medical records. Population 1 was derived from patients seeking evaluation for a low bone density diagnosis at the Johns Hopkins Greenberg Center for Skeletal Dysplasias (GCSD); population 2 was identified through a targeted electronic medical record (EMR) query of low serum alkaline phosphatase (AP) measurements obtained through the Johns Hopkins Clinical Laboratory. RESULTS In population 1 (n = 38), 27 (71%) were confirmed to have HPP. Of these, 14 (52%) presented with FH information in the EMR from 3 or more family members, and in 4 (15%) FH was suggestive of HPP. In population 2 (n=348), a similar proportion of subjects had 3 or more family members mentioned in the EMR (183 or 53%), but only 3 subjects (1%) included sufficient detail to determine that the family history was suggestive of HPP. Notably, once all patients in population 1 completed a medical genetics evaluation and HPP was confirmed, 20 (74%) had probable affected family members identified through obtaining and analyzing a pedigree. After cascade testing was offered to these family members, 17 patients (71%) from population 1 had at least one family member with HPP confirmed at a molecular level. CONCLUSIONS Based on these results, we propose that a full genetic medicine evaluation of those subjects from population 2 at highest risk of HPP would confirm HPP in many of them and identify similarly affected family members. We propose that taking a FH refines the diagnostic precision for patients with low bone density and identifies affected family members, and that HPP is likely more prevalent than previously thought. CLINICALTRIAL n/a