Bachfischer Lisa, Behanova Martina, Rath Eva, Meng Stefan, Mittelbach Andreas, Haschka Judith, Dechat Thomas, Raimann Adalbert, Mindler Gabriel, Uyanik Gökhan, Zwerina Jochen, Kocijan Roland
Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of OEGK, 1140 Vienna, Austria.
1st Medical Department, Hanusch Hospital, 1140 Vienna, Austria.
JBMR Plus. 2025 Jul 7;9(9):ziaf113. doi: 10.1093/jbmrpl/ziaf113. eCollection 2025 Sep.
X-linked hypophosphatemia (XLH) is a rare genetic disorder characterized by renal phosphate wasting, leading to rickets in children and osteomalacia in adults. An underrecognized symptom in adults with XLH is enthesopathy, leading to pain and reduced quality of life. Although enthesopathies primarily affect tendon insertions, they are closely linked to the underlying bone pathology of XLH, reflecting mineralization defects characteristic of osteomalacia. This study aimed to determine the prevalence of enthesopathies in XLH patients using ultrasound and assess their association with pain and physical function. This cross-sectional study included 26 XLH patients (mean age: 37.9 ± 17.1 yr, 76.9% female). Ultrasound examinations assessed 6 tendons of the upper and 10 tendons of the lower extremity in adolescents and adults with XLH. Laboratory tests included phosphate, alkaline phosphatase, and i-FGF23 levels. Physical performance was evaluated using the 6-min walk test (6MWT) and the chair rising test. Pain was assessed using the brief pain inventory. Enthesopathies were detected by ultrasound in 84.6% of patients, affecting predominantly the lower extremities (80.8%) but also the upper extremities (50%). The quadriceps and achilles tendons were the most frequently affected sites. Enthesopathy prevalence increased with age ( = 0.61, < .05) and negatively correlated with 6MWT performance ( = -0.4, = .04). No significant association was found between enthesopathies and BMI or pain scores. Based on the worst pain scale, 73.1% of patients reported mild pain. Inter-rater agreement for ultrasound assessment was good to very good/excellent. Enthesopathies of the lower, but also upper extremities are common features of XLH. Their presence correlates with reduced mobility, emphasizing the need for targeted interventions. The exact pathophysiological mechanisms remain unclear, but age appears to be a key factor.
X连锁低磷血症(XLH)是一种罕见的遗传性疾病,其特征为肾脏磷酸盐流失,导致儿童佝偻病和成人骨软化症。XLH成人患者中一种未得到充分认识的症状是附着点病,会导致疼痛并降低生活质量。虽然附着点病主要影响肌腱附着处,但它们与XLH的潜在骨骼病理密切相关,反映了骨软化症的矿化缺陷特征。本研究旨在使用超声确定XLH患者中附着点病的患病率,并评估其与疼痛和身体功能的关联。这项横断面研究纳入了26例XLH患者(平均年龄:37.9±17.1岁,76.9%为女性)。超声检查评估了青少年和成人XLH患者上肢的6条肌腱和下肢的10条肌腱。实验室检查包括磷酸盐、碱性磷酸酶和i-FGF23水平。使用6分钟步行试验(6MWT)和从椅子上起身试验评估身体表现。使用简明疼痛量表评估疼痛。超声检查发现84.6%的患者存在附着点病,主要影响下肢(80.8%),但也影响上肢(50%)。股四头肌和跟腱是最常受累的部位。附着点病的患病率随年龄增加而升高(r = 0.61,P <.05),并与6MWT表现呈负相关(r = -0.4,P = 0.04)。未发现附着点病与体重指数或疼痛评分之间存在显著关联。根据最严重疼痛量表,73.1%的患者报告有轻度疼痛。超声评估的评分者间一致性良好至非常好/优秀。下肢以及上肢的附着点病是XLH的常见特征。它们的存在与活动能力下降相关,强调了针对性干预的必要性。确切的病理生理机制尚不清楚,但年龄似乎是一个关键因素。
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