Bonamichi-Santos Rafael, Yoshimi-Kanamori Kelly, Giavina-Bianchi Pedro, Aun Marcelo Vivolo
Clinical Immunology and Allergy Division, University of São Paulo, Av. Dr. Arnaldo, 455, Cerqueira César, São Paulo, São Paulo CEP 01246-903, Brazil.
Clinical Immunology and Allergy Division, University of São Paulo, Av. Dr. Arnaldo, 455, Cerqueira César, São Paulo, São Paulo CEP 01246-903, Brazil.
Immunol Allergy Clin North Am. 2018 Aug;38(3):497-504. doi: 10.1016/j.iac.2018.04.004. Epub 2018 Jun 9.
Mast cell activation disorders (MCADs) consist of episodic systemic symptoms due to mast cell mediator release. Diagnosis is based on clinical presentation and determination of high levels of tryptase or histamine. Ehlers-Danlos syndrome (EDS) and postural tachycardia syndrome (POTS) frequently coexist. It has been described that individuals with these syndromes can even present symptoms compatible to MCADs, which could represent a new specific phenotype. Preliminary genetic data suggest a role for tryptase in the pathogenesis of MCADs, EDS, and POTS association. Studies with larger samples evaluating clinics, genetics, and histopathology are required to define the real correlation between these 3 clinical entities.
肥大细胞活化障碍（MCADs）由肥大细胞介质释放引起的发作性全身症状组成。诊断基于临床表现以及检测高水平的类胰蛋白酶或组胺。埃勒斯-当洛综合征（EDS）和体位性心动过速综合征（POTS）常并存。有描述称，患有这些综合征的个体甚至可能出现与MCADs相符的症状，这可能代表一种新的特定表型。初步的基因数据表明类胰蛋白酶在MCADs、EDS和POTS关联的发病机制中起作用。需要进行更大样本量的研究，评估临床症状、遗传学和组织病理学，以确定这三种临床实体之间的真正关联。
