Characterization of Mast Cell Activation Syndrome
Characterization of Mast Cell Activation Syndrome
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DOI：
10.1016/j.amjms.2016.12.013
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发表时间：
2017-03-01
影响因子：
3.1
通讯作者：
Lazarchick, John
中科院分区：
文献类型：
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作者：
Afrin, Lawrence B.;Self, Sally;Lazarchick, John
背景：肥大细胞激活综合征（MCAS）是一种最近发现的导致慢性多系统炎症和过敏的非肿瘤性肥大细胞疾病，它似乎很普遍，因此很重要。我们首次报告了大型 MCAS 人群的系统特征。方法：对 298 名回顾性和 115 名前瞻性 MCAS 患者的人口统计学、合并症、症状、家族史、体格检查和实验室检查结果进行了回顾。通过流式细胞术检查潜在受试者的血液样本是否存在克隆性肥大细胞疾病，并检测可能导致 MCAS 中频繁发生单核细胞增多的细胞因子。结果：从人口统计学角度来看，白人女性占主导地位。症状出现和诊断时的中位年龄分别为 9 岁和 49 岁（范围分别为 0-88 岁和 16-92 岁），从症状出现到诊断的中位时间为 30 岁（范围：1-85 岁）。合并症、症状和家庭医疗问题的中位数分别为 11、20 和 4（范围分别为 1-66、2-84 和 0-33）。胃食管反流、疲劳和皮肤病是最常见的合并症、症状和检查结果。常规实验室中的异常现象很常见且多种多样，但通常都很轻微。最有用的诊断标志物是肝素、前列腺素 D-2、组胺和嗜铬粒蛋白 A。流式细胞术和细胞因子评估没有帮助。结论：我们的研究强调了 MCAS 的发病负担和具有挑战性的异质性。鉴于良好的生存和治疗前景，认可非常重要。
Background: Mast cell activation syndrome (MCAS), a recently recognized nonneoplastic mast cell disease driving chronic multisystem inflammation and allergy, appears prevalent and thus important. We report the first systematic characterization of a large MCAS population.Method: Demographics, comorbidities, symptoms, family histories, physical examination and laboratory findings were reviewed in 298 retrospective and 115 prospective patients with MCAS. Blood samples from prospective subjects were examined by flow cytometry for clonal mast cell disease and tested for cytokines potentially driving the monocytosis frequent in MCAS.Resuls: Demographically, white females dominated. Median ages at symptom onset and diagnosis were 9 and 49 years, respectively (range: 0-88 and 16-92, respectively) and median time from symptom onset to diagnosis was 30 years (range: 1-85). Median numbers of comorbidities, symptoms, and family medical issues were 11, 20, and 4, respectively (range: 1-66, 2-84, and 0-33, respectively). Gastroesophageal reflux, fatigue and dermatographism were the most common comorbidity, symptom and examination finding. Abnormalities in routine laboratories were common and diverse but typically modest. The most useful diagnostic markers were heparin, prostaglandin D-2, histamine and chromogranin A. Flow cytometric and cytokine assessments were unhelpful.Conclusions: Our study highlights MCAS's morbidity burden and challenging heterogeneity. Recognition is important given good survival and treatment prospects.