Vaucher Marie, Gonzalez Rodriguez Elena, Efthymiou Anna, Sagez Julien
Service de médecine interne, HFR Fribourg, Hôpital cantonal, 1700 Fribourg.
Centre interdisciplinaire des maladies osseuses, Service de rhumatologie, Centre hospitalier universitaire vaudois et Université de Lausanne, 1011 Lausanne.
Rev Med Suisse. 2023 Mar 22;19(819):591-595. doi: 10.53738/REVMED.2023.19.819.591.
Systemic mastocytosis is a rare disease characterized by the uncontrolled clonal proliferation of abnormal mast cells in one or more extracutaneous organs. It is no longer considered a myeloproliferative neoplasia but a distinct subgroup following the review of the classification by WHO in 2016. The average age at diagnosis is 60 years regardless of gender. Bone involvement, in the broad sense, is very common and often asymptomatic. Osteoporosis or bone fragility concerns approximately 20 % of cases. The particularity of bone damage directly induced by mast cell proliferation is its heterogeneity, sometimes combining osteolysis and osteosclerosis simultaneously. This makes the interpretation of paraclinical values (bone density, biomarkers) complex and the therapeutic attitude becomes a real challenge.
系统性肥大细胞增多症是一种罕见疾病,其特征为一个或多个皮肤外器官中异常肥大细胞的失控克隆性增殖。2016年世界卫生组织对分类进行审查后,它不再被视为骨髓增殖性肿瘤,而是一个独特的亚组。无论性别,诊断时的平均年龄为60岁。广义上讲,骨骼受累非常常见且通常无症状。骨质疏松或骨质脆弱约见于20%的病例。肥大细胞增殖直接导致的骨损伤的特殊性在于其异质性,有时同时合并骨质溶解和骨质硬化。这使得对辅助检查结果(骨密度、生物标志物)的解读变得复杂,治疗策略也成为一项真正的挑战。