Greenhawt Matthew, Akin Cem
Division of Allergy and Immunology, Department of Internal Medicine, University of Michigan, School of Medicine, Ann Arbor, Michigan 48109, USA.
Curr Opin Allergy Clin Immunol. 2007 Oct;7(5):387-92. doi: 10.1097/ACI.0b013e3282a6443e.
To illustrate features of allergy in mastocytosis.
The rates of atopy in patients with mastocytosis have generally been found to be similar to those of the normal population, although the incidence of anaphylaxis is much higher in mastocytosis. Introduction of objective pathologic criteria by the WHO for the diagnosis of mastocytosis has greatly facilitated the workup of patients with suspected mastocytosis, and has led to identification of mast cell disease in a subset of patients with anaphylaxis. There is increasing evidence that an activating c-kit mutation (D816V) exists in a subset of patients with recurrent mast cell activation symptoms who have normal-appearing bone marrow biopsies in routine evaluations without skin lesions. The genetic deficiency of alpha tryptase has not been found to influence serum tryptase levels in patients with mastocytosis.
Pathologic mast cell activation is a key finding in both allergic diseases and mastocytosis, albeit caused by entirely different mechanisms. Mastocytosis should be suspected in patients with recurrent anaphylaxis, who present with syncopal or near-syncopal episodes without associated hives or angioedema.
阐述肥大细胞增多症中的过敏特征。
尽管肥大细胞增多症患者中过敏反应的发生率远高于正常人群，但一般发现肥大细胞增多症患者的特应性发生率与正常人群相似。世界卫生组织（WHO）引入的用于诊断肥大细胞增多症的客观病理标准极大地促进了疑似肥大细胞增多症患者的检查，并在一部分过敏反应患者中发现了肥大细胞疾病。越来越多的证据表明，在一部分复发性肥大细胞活化症状患者中存在活化的c-kit突变（D816V），这些患者在常规评估中骨髓活检外观正常且无皮肤病变。尚未发现α-糜蛋白酶的基因缺陷会影响肥大细胞增多症患者的血清糜蛋白酶水平。
病理性肥大细胞活化是过敏性疾病和肥大细胞增多症的关键发现，尽管其由完全不同的机制引起。对于反复发生过敏反应、出现晕厥或接近晕厥发作且无相关荨麻疹或血管性水肿的患者，应怀疑患有肥大细胞增多症。
