Khanjee Naveed, Maalouf Naim M
Department of Internal Medicine, Division of Endocrinology, University of Texas Southwestern Medical Center, Dallas, TX 75390-8885, USA.
The Charles and Jane Pak Center for Mineral Metabolism and Clinical Research, University of Texas Southwestern Medical Center, Dallas, TX 75390-8885, USA.
J Endocr Soc. 2022 Oct 27;6(12):bvac159. doi: 10.1210/jendso/bvac159. eCollection 2022 Oct 26.
Hypophosphatasia is a rare, inherited condition that causes osteomalacia and recurrent fractures. Therapeutic options for osteoporosis in patients with hypophosphatasia are limited because of concerns for a greater likelihood of atypical femoral fractures with antiresorptive agents. We report here the case of a patient with hypophosphatasia and osteoporosis who was treated with romosozumab-aqqg (Romo). An 81-year-old woman presented for management of osteoporosis with multiple fractures. She experienced a decline in bone mineral density over 20 years despite sequential osteoporosis treatment with oral bisphosphonates, hormone replacement therapy, teriparatide, and denosumab. Hypophosphatasia was suspected because of low serum alkaline phosphatase levels and was confirmed by genetic testing. After diagnosing hypophosphatasia, bone mineral density continued to decline and a trial of Romo was begun. After 1 year of Romo therapy, bone mineral density improved by 21%, and 10% at the lumbar spine and total hip, respectively. These changes were substantially greater than what she had experienced with prior teriparatide therapy. Blood alkaline phosphatase remained low on Romo. To our knowledge, this is the first report of a patient with hypophosphatasia and osteoporosis treated with Romo. In our patient, Romo did not significantly impact serum alkaline phosphatase, but improved bone mineral density significantly. In conclusion, Romo is a potential treatment option for osteoporosis in patients with hypophosphatasia for whom limited alternatives exist.
低磷性骨软化症是一种罕见的遗传性疾病，可导致骨软化和反复骨折。由于担心抗吸收药物导致非典型股骨骨折的可能性更大，低磷性骨软化症患者骨质疏松的治疗选择有限。我们在此报告一例低磷性骨软化症合并骨质疏松症患者接受罗莫单抗-aqqg（Romo）治疗的病例。一名81岁女性因多处骨折前来治疗骨质疏松症。尽管先后接受了口服双膦酸盐、激素替代疗法、特立帕肽和地诺单抗治疗骨质疏松症，但她在20多年间骨矿物质密度仍持续下降。由于血清碱性磷酸酶水平低，怀疑为低磷性骨软化症，并通过基因检测得以证实。诊断为低磷性骨软化症后，骨矿物质密度继续下降，于是开始试用Romo。经过1年的Romo治疗，骨矿物质密度分别提高了21%、腰椎提高了10%、全髋提高了10%。这些变化明显大于她之前接受特立帕肽治疗时的情况。接受Romo治疗期间，血液碱性磷酸酶仍保持低水平。据我们所知，这是首例低磷性骨软化症合并骨质疏松症患者接受Romo治疗的报告。在我们的患者中，Romo对血清碱性磷酸酶没有显著影响，但显著提高了骨矿物质密度。总之，对于选择有限的低磷性骨软化症患者，Romo是治疗骨质疏松症的一种潜在选择。
