Lehane Florence, Malaise Olivier, Von Frenckell Christian, Otto Bernard, Docampo Elisa, Ribbens Clio
Rheumatology Department, University Hospital of Liège, 4000 Liège, Belgium.
Radiology Department, University Hospital of Liège, 4000 Liège, Belgium.
J Clin Med. 2024 Apr 13;13(8):2263. doi: 10.3390/jcm13082263.
Hypophosphatasia is a rare genetic disease characterized by abnormal alkaline phosphatase activity and deficiency of bone and teeth mineralization. Hypophosphatasia is well known in pediatrics with typical presentations in children, but mild forms can also be present in adults and are difficult to detect. We present the case of a 50-year-old woman referred for pain management, with a previous diagnosis of fibromyalgia. The association of clinical features (diffuse pain syndrome, early dental loosening, personal history of two fractures with osteoporosis, and family history of osteoporosis) with radiographic (heterotopic calcifications of the yellow and interspinous lumbar ligaments) and biological (low levels of total alkaline phosphatase) indices was suggestive of hypophosphatasia, which was confirmed by genetic analysis. We review and discuss the association between hypophosphatasia, musculoskeletal pain, and calcium pyrophosphate deposition and the importance of raising the diagnosis of adult-onset hypophosphatasia when facing these two rheumatologic entities.
低磷酸酯酶症是一种罕见的遗传性疾病，其特征为碱性磷酸酶活性异常以及骨骼和牙齿矿化不足。低磷酸酯酶症在儿科领域广为人知，在儿童中有典型表现，但轻度形式也可能出现在成人中且难以检测。我们报告一例50岁因疼痛管理前来就诊的女性病例，其先前诊断为纤维肌痛。临床特征（弥漫性疼痛综合征、早期牙齿松动、既往两次骨质疏松性骨折个人史以及骨质疏松家族史）与影像学（黄韧带和腰椎棘间韧带异位钙化）及生物学指标（总碱性磷酸酶水平低）相结合提示低磷酸酯酶症，基因分析证实了这一诊断。我们回顾并讨论低磷酸酯酶症、肌肉骨骼疼痛与焦磷酸钙沉积之间的关联，以及在面对这两种风湿性疾病实体时提高成人型低磷酸酯酶症诊断的重要性。
