Bulai Livideanu C, Apoil P A, Lepage B, Eischen M, Laurent C, Laharrague P, Lamant L, Tournier E, Tavitian S, Pouplard C, Recher C, Laroche M, Mailhol C, Dubreuil P, Hermine O, Blancher A, Paul C
Mastocytosis Expert Center of Midi-Pyrénées, Department of Dermatology, Paul Sabatier University, Toulouse University Hospital, Toulouse, France.
Mastocytosis Expert Center of Midi-Pyrénées, Immunology Clinical Laboratory, Toulouse University Hospital, Toulouse, France.
Clin Exp Allergy. 2016 Jan;46(1):133-41. doi: 10.1111/cea.12627.
Mastocytosis is difficult to diagnose, especially when systemic mast cell activation symptoms are not present or involve only one extracutaneous organ.
The main objective was to evaluate the accuracy of the bone marrow tryptase level in the diagnosis of systemic mastocytosis in patients with a clinical suspicion of mastocytosis.
We included all adult patients evaluated in our centre between December 2009 and 2013 for suspected mastocytosis as part of a standardized procedure and who had a bone marrow and serum tryptase assay on the same day. The diagnosis of systemic mastocytosis was established on the basis of the World Health Organization criteria as the gold standard. The accuracy of the bone marrow tryptase level in the diagnosis of systemic mastocytosis was assessed by a receiver operating characteristics curve analysis. The different sensitivity and specificity values, corresponding to the set of possible bone marrow tryptase level cut-off values, were estimated with 95% confidence intervals.
Seventy-three patients were included. The diagnosis of systemic mastocytosis was established in 43 patients (58.9%). The median bone marrow tryptase level was 423 μg/L [95% CI: 217-868] in the systemic mastocytosis group and 7.5 μg/L [95% CI: 4.6-17.1] in the non-systemic mastocytosis group (P < 0.001). A cut-off value of 50 μg/L for bone marrow tryptase identified systemic mastocytosis with a sensitivity of 93.0% [95% CI: 80.9-98.5%] and a specificity of 90.0% [95% CI: 73.5-97.9%].
The bone marrow tryptase level appears to be a valuable diagnostic criterion for confirming systemic mastocytosis. If this diagnosis can reliably be excluded by evaluation of the bone marrow tryptase level, there would be no need to perform a bone marrow biopsy.
肥大细胞增多症难以诊断，尤其是在不存在系统性肥大细胞活化症状或仅累及一个皮肤外器官时。
主要目的是评估临床怀疑患有肥大细胞增多症患者的骨髓类胰蛋白酶水平在系统性肥大细胞增多症诊断中的准确性。
我们纳入了2009年12月至2013年期间在我们中心按照标准化程序评估的所有疑似肥大细胞增多症的成年患者，这些患者在同一天进行了骨髓和血清类胰蛋白酶检测。以世界卫生组织标准作为金标准来确立系统性肥大细胞增多症的诊断。通过受试者工作特征曲线分析评估骨髓类胰蛋白酶水平在系统性肥大细胞增多症诊断中的准确性。针对一系列可能的骨髓类胰蛋白酶水平临界值，估计其不同的敏感性和特异性值，并给出95%置信区间。
共纳入73例患者。43例患者（58.9%）被诊断为系统性肥大细胞增多症。系统性肥大细胞增多症组的骨髓类胰蛋白酶水平中位数为423μg/L [95%置信区间：217 - 868]，非系统性肥大细胞增多症组为7.5μg/L [95%置信区间：4.6 - 17.1]（P < 0.001）。骨髓类胰蛋白酶临界值为50μg/L时，诊断系统性肥大细胞增多症的敏感性为93.0% [95%置信区间：80.9 - 98.5%]，特异性为90.0% [95%置信区间：73.5 - 97.9%]。
骨髓类胰蛋白酶水平似乎是确诊系统性肥大细胞增多症的一项有价值的诊断标准。如果通过评估骨髓类胰蛋白酶水平能够可靠地排除该诊断，那么就无需进行骨髓活检。
