Schmidt Tobias, Rolvien Tim, Linke Carolin, Jandl Nico Maximilian, Oheim Ralf, Amling Michael, Barvencik Florian
Department of Osteology and Biomechanics University Medical Center Hamburg-Eppendorf Hamburg Germany.
Department of Orthopedics University Medical Center Hamburg-Eppendorf Hamburg Germany.
JBMR Plus. 2019 Aug 28;3(8):e10215. doi: 10.1002/jbm4.10215. eCollection 2019 Aug.
The response to teriparatide has been described in very few cases of hypophosphatasia (HPP). In this cross-sectional study, we report the prevalence of symptomatic bone marrow edema (BME) and fracture healing complications in a large cohort of childhood and adult HPP patients and discuss the results of teriparatide treatment in four cases. From 2016 to 2018, 51 patients with a diagnosis of HPP were seen at our institution. The diagnosis of HPP was established by low serum alkaline phosphatase (ALP), elevated serum pyridoxal-5-phosphate (PLP), at least one typical clinical symptom of HPP and supported by ALPL mutation analysis. In this study cohort, 28 (56%) and 14 (27%) patients had a history of fracture or a history of BME, respectively. Four patients, including middle-aged to elderly women and men who all presented with persistent symptomatic BME or fracture healing complications, were treated with teriparatide. DXA was performed prior to treatment and laboratory values were measured on a regular basis during treatment. Treatment with teriparatide showed variable effects in terms of clinical and biochemical response. Although all four patients displayed a temporary increase in ALP activity, only two patients with a mild form of adult HPP and moderately increased PLP levels showed definite clinical and radiological improvement after teriparatide treatment. In conclusion, fracture healing complications and BME occur frequently in HPP patients. Teriparatide shows variable clinical and biochemical effects depending on the severity of the disease. PLP levels and the number of ALPL alleles might be good parameters to predict treatment outcomes. © 2019 The Authors. Published by Wiley Periodicals, Inc. on behalf of the American Society for Bone and Mineral Research.
在非常少的低磷性骨软化症（HPP）病例中描述了对特立帕肽的反应。在这项横断面研究中，我们报告了一大群儿童和成人HPP患者中有症状性骨髓水肿（BME）和骨折愈合并发症的患病率，并讨论了4例特立帕肽治疗的结果。2016年至2018年，我院共诊治了51例诊断为HPP的患者。通过低血清碱性磷酸酶（ALP）、升高的血清磷酸吡哆醛（PLP）、至少一种典型的HPP临床症状并经ALPL突变分析确诊为HPP。在该研究队列中，分别有28例（56%）和14例（27%）患者有骨折史或BME史。4例患者，包括中年至老年女性和男性，均表现为持续性有症状的BME或骨折愈合并发症，接受了特立帕肽治疗。治疗前进行了双能X线吸收法（DXA）检查，并在治疗期间定期测量实验室值。特立帕肽治疗在临床和生化反应方面显示出不同的效果。虽然所有4例患者的ALP活性均出现暂时升高，但只有2例轻度成人HPP且PLP水平中度升高的患者在特立帕肽治疗后显示出明确的临床和影像学改善。总之，骨折愈合并发症和BME在HPP患者中频繁发生。特立帕肽根据疾病严重程度显示出不同的临床和生化效果。PLP水平和ALPL等位基因数量可能是预测治疗结果的良好参数。©2019作者。由Wiley Periodicals, Inc.代表美国骨与矿物质研究学会出版。
