scholarly journals POS1137 IDENTIFYING ADULT HYPOPHOSPHATASIA IN THE RHEUMATOLOGY UNIT

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 848.1-848
Author(s):  
J. Feurstein ◽  
M. Behanova ◽  
J. Haschka ◽  
K. Roetzer ◽  
G. Uyanik ◽  
...  

Background:The most frequent manifestation in adult Hypophosphatasia (HPP) is musculoskeletal pain.1,2 The unspecific nature of its clinical presentation may prevent correct diagnosis.3Objectives:Identifying adult hypophosphatasia in the rheumatology unit.Methods:Over a period of 10 years 9,522 patients were screened in a rheumatological outpatient unit. Serum ALP levels ≤ 40 U/l were found in 524 patients. After screening for secondary causes, 73 patients were invited for clinical evaluation. Genetic testing was performed in 23 patients with suspected HPP. Logistic regression models were used to estimate the association of each clinical factor with HPP.Results:Mutations in the ALPL gene were observed in 57% of genetically screened patients. Arthralgia, fractures and pain were the leading symptoms in HPP patients. Chondrocalcinosis (OR 29.12; 95% CI 2.02-1593.52) and dental disease (OR 8.33; 95% CI 0.93-143.40) were associated with HPP independent of BMI. Onset of symptoms in HPP was at 35.1 (14.3) years, with a mean duration from symptoms to diagnosis of 14.4 (8.1) years. Bone mineral density (BMD) and trabecular bone score (TBS) as well as bone turnover markers were not indicative for HPP.Conclusion:HPP can mimic joint diseases.4 Thus, in patients with uncertain rheumatologic complaints and low ALP, HPP should be considered as potential diagnosis.References:[1]Durrough C, Colazo JM, Simmons J, et al. Characterization of physical, functional, and cognitive performance in 15 adults with hypophosphatasia. Bone 2021;142:115695.[2]Seefried L, Kishnani PS, Moseley S, et al. Pharmacodynamics of asfotase alfa in adults with pediatric-onset hypophosphatasia. Bone 2021;142:115664.[3]Högler W, Langman C, Gomes da Silva H, et al. Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry. BMC musculoskeletal disorders 2019;20(1):80.[4]Seefried L, Dahir K, Petryk A, et al. Burden of Illness in Adults With Hypophosphatasia: Data From the Global Hypophosphatasia Patient Registry. Journal of bone and mineral research: the official journal of the American Society for Bone and Mineral Research 2020;35(11):2171-78.Disclosure of Interests:None declared.

2021 ◽  
Vol 28 (3) ◽  
pp. 239-247
Author(s):  
Hyeon Jang Jeong ◽  
Joong Mo Ahn ◽  
Joo Han Oh

Background: Osteoporosis is an important clinical factor for tendon healing after arthroscopic rotator cuff repair (ARCR). Conventional dual energy X-ray absorptiometry (DXA) of the hip and lumbar spine (LS) does not represent proximal humeral bone mineral density (BMD). Theoretically, direct measurement of the BMD of the proximal humerus is the best method; however, it is not popular and is non-standardized. Therefore, we evaluate whether the trabecular bone score (TBS) using LS DXA would represent proximal humeral BMD.Methods: Conventional hip and LS DXA and proximal humeral BMD were measured in 212 consecutive ARCR patients, and TBS was calculated using LS DXA. Comparative analysis between the affected and contralateral asymptomatic shoulders was done; moreover, correlation analysis was conducted to evaluate the representativity of TBS for proximal humeral BMD. Regression analysis was performed to elucidate the risk factor of intraoperative suture anchor failure (ISAF).Results: BMDs of the affected shoulder were significantly lower than those of the contralateral side (all P<0.05). TBS failed to present a strong correlation with proximal humeral BMD (correlation coefficients 0.155-0.506, all P<0.05), and the BMD of the greater tuberosity (GT) of the proximal humerus was revealed to be a sole risk factor for ISAF (odds ratio, 0.01, P=0.020).Conclusions: TBS and conventional hip and LS DXA did not represent proximal humeral BMD. Furthermore, among the various radiological measurements, the BMD of the GT was a sole risk factor of ISAF. Therefore, further research for the direct measurement of proximal humeral BMD is mandatory to predict proximal humeral focal osteoporosis.


2019 ◽  
Vol 25 ◽  
pp. 77-78
Author(s):  
Roxana Dusceac ◽  
Dan Niculescu ◽  
Madalina Sorohan ◽  
Ramona Dobre ◽  
Catalina Poiana

2020 ◽  
Vol 103 (11) ◽  
pp. 1131-1137

Background: When compared to people without type 2 diabetes mellitus (T2DM), people with T2DM have an increase in fracture risk despite having higher bone mineral density (BMD). Many studies in Caucasians demonstrated that trabecular bone score (TBS) is lower in people with T2DM than those without. The utility of TBS as a fracture risk assessment tool in Asians with T2DM is currently unclear. Objective: To compared lumbar spine (LS) BMD and TBS in Thais with or without T2DM and investigate the correlation between TBS and hemoglobin A1c (HbA1c) and diabetes duration in participants with T2DM. Materials and Methods: The present study was a cross-sectional study that included 97 participants with T2DM (37 men and 60 women) and 342 participants without T2DM (174 men and 168 women). LS-BMD and TBS were obtained. Results: Men and women with T2DM were older and had higher body mass index (BMI). Men with T2DM had significant higher LS-BMD (1.051±0.166 versus 0.972±0.125, p=0.009) and non-significant lower TBS (1.333±0.084 versus 1.365±0.096, p=0.055) than those without. Similarly, women with T2DM had significant higher LS-BMD (0.995±0.155 versus 0.949±0.124, p=0.021) and lower TBS (1.292±0.105 versus 1.382±0.096, p<0.001). After adjusting for age and BMI, T2DM predicted higher BMD in men (p<0.001), but not in women (p=0.143). T2DM was not associated with TBS after adjusting for age and BMI in both genders (p=0.403 and p=0.151 in men and women, respectively). TBS did not correlate with HbA1c in both genders. However, TBS was non-significantly associated with diabetes duration in women (p=0.073), but not in men (p=0.639). Conclusion: T2DM significantly predicted higher LS-BMD only in men and was not independently associated with TBS in both genders. These data highlighted that, in T2DM, there was some variation in the clinical usefulness of BMD and TBS in predicting osteoporotic fractures with regard to clinical characteristic of participants. Keywords: Bone mineral density, Type 2 diabetes mellitus, Trabecular bone score


Endocrine ◽  
2021 ◽  
Author(s):  
Enisa Shevroja ◽  
Francesco Pio Cafarelli ◽  
Giuseppe Guglielmi ◽  
Didier Hans

AbstractOsteoporosis, a disease characterized by low bone mass and alterations of bone microarchitecture, leading to an increased risk for fragility fractures and, eventually, to fracture; is associated with an excess of mortality, a decrease in quality of life, and co-morbidities. Bone mineral density (BMD), measured by dual X-ray absorptiometry (DXA), has been the gold standard for the diagnosis of osteoporosis. Trabecular bone score (TBS), a textural analysis of the lumbar spine DXA images, is an index of bone microarchitecture. TBS has been robustly shown to predict fractures independently of BMD. In this review, while reporting also results on BMD, we mainly focus on the TBS role in the assessment of bone health in endocrine disorders known to be reflected in bone.


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