Division of Rheumatology, Allergy and Clinical Immunology, University of California at Davis School of Medicine, 451 Health Sciences Drive, Suite 6510, Davis, CA 95616, USA.
Clin Rev Allergy Immunol. 2010 Apr;38(2-3):125-34. doi: 10.1007/s12016-009-8164-8.
Mastocytosis denotes a wide range of disorders characterized by having abnormal growth and accumulation of mast cells. Mast cells contain histamine and other inflammatory mediators, which have diverse actions within the body, and play crucial roles in acquired and innate immunity. The diverse actions of these inflammatory mediators can lead to puzzling symptoms in individuals with mastocytosis. These symptoms can include flushing, pruritus, nausea, vomiting, abdominal pain, diarrhea, vascular instability, and headache. These clinical features generally divide into cutaneous and systemic manifestations, giving rise to the two divisions of mastocytosis: cutaneous mastocytosis (CM) and systemic mastocytosis. CM has a highly favorable clinical prognosis. Systemic mastocytosis has a range of severity, with the milder forms often remaining chronic conditions, while the severe forms have rapid complex courses with poor prognoses. Generally, treatment is aimed at avoiding mast cell degranulation, inhibiting the actions of the constitutive mediators released by mast cells and, in severe cases, cytoreductive and polychemotherapeutic agents. Behavioral intervention includes avoidance of triggers, such as heat, cold, pressure, exercise, sunlight, and strong emotions. Treatment for released histamine and other inflammatory mediators includes H1 antihistamines, H2 antihistamines, proton pump inhibitors, anti-leukotriene agents, and injectible epinephrine (for possible anaphylaxis). For severe cases, treatment includes cytoreductive agents (interferon alpha, glucocorticoids, and cladribine) and polychemotherapeutic agents (daunomycin, etoposide, and 6-mercaptopurine). For very specific and severe cases, tyrosine kinase inhibitors, imatinib and midostaurine, have shown promise.
肥大细胞增多症是一组以肥大细胞异常生长和积累为特征的疾病。肥大细胞含有组胺和其他炎症介质，这些介质在体内具有多种作用，在获得性和固有免疫中发挥关键作用。这些炎症介质的多种作用可导致肥大细胞增多症患者出现令人困惑的症状。这些症状包括潮红、瘙痒、恶心、呕吐、腹痛、腹泻、血管不稳定和头痛。这些临床特征通常分为皮肤和系统性表现，导致肥大细胞增多症分为两型：皮肤肥大细胞增多症（cutaneous mastocytosis，CM）和系统性肥大细胞增多症（systemic mastocytosis）。CM 具有极好的临床预后。系统性肥大细胞增多症有多种严重程度，较轻的形式通常为慢性疾病，而严重的形式则具有快速复杂的病程和不良预后。一般来说，治疗的目的是避免肥大细胞脱颗粒，抑制肥大细胞释放的组成性介质的作用，在严重的情况下，使用细胞减灭和多化疗药物。行为干预包括避免触发因素，如热、冷、压力、运动、阳光和强烈的情绪。释放的组胺和其他炎症介质的治疗包括 H1 抗组胺药、H2 抗组胺药、质子泵抑制剂、抗白三烯药物和可注射的肾上腺素（用于可能的过敏反应）。对于严重的病例，治疗包括细胞减灭药物（干扰素α、糖皮质激素和克拉屈滨）和多化疗药物（柔红霉素、依托泊苷和 6-巯基嘌呤）。对于非常特定和严重的病例，酪氨酸激酶抑制剂伊马替尼和米哚妥林显示出前景。
