Department of Allergology, Medical University of Gdansk, 80-211 Gdańsk, Poland.
Department of Respiratory Medicine and Allergy, Karolinska University Hospital, 14186 Huddinge, Sweden.
Int J Mol Sci. 2021 Feb 1;22(3):1454. doi: 10.3390/ijms22031454.
Primary and secondary mast cell activation syndromes (MCAS) can occur in patients with mastocytosis. During the past few years our knowledge about the pathogenesis and disease-triggering mechanisms in MCAS and mastocytosis have increased substantially. Whereas mastocytosis is characterized by an accumulation of neoplastic (clonal) mast cells (MC) in various organ systems, MCAS is defined by a massive and systemic activation of these cells. Mast cells are crucial effector cells in allergic diseases, thus their elevated number and activation can cause severe anaphylactic reactions and MCAS in patients with mastocytosis. However, these cells may also degranulate spontaneously or degranulate in response to non-allergic triggers leading to clinical symptoms. In mastocytosis patients, such symptoms may lead to the diagnosis of a primary MCAS. The diagnosis of a concomitant allergy in mastocytosis patients is challenging. In these patients, a mixed form (primary and secondary) of MCAS may be diagnosed. These patients may also suffer from life-threatening anaphylactic reactions when exposed to allergens. In these cases, the possibility of severe side effects of in vivo provocations can sometimes also limit diagnostic evaluations. In the current article, we discuss the diagnosis and management of patients suffering from mastocytosis and concomitant MCAS, with special emphasis on novel diagnostic tests and management, including allergen microarrays, recombinant allergen analysis, basophil activation tests, optimal prophylaxis, and specific therapies.
原发性和继发性肥大细胞激活综合征(MCAS)可发生在肥大细胞增多症患者中。在过去的几年中,我们对 MCAS 和肥大细胞增多症的发病机制和疾病触发机制的了解有了很大的提高。虽然肥大细胞增多症的特征是在各种器官系统中积累了肿瘤性(克隆)肥大细胞(MC),但 MCAS 则定义为这些细胞的大量和全身性激活。肥大细胞是过敏疾病的关键效应细胞,因此其数量增加和激活可导致肥大细胞增多症患者发生严重的过敏反应和 MCAS。然而,这些细胞也可能自发脱颗粒或对非过敏触发物脱颗粒,从而导致临床症状。在肥大细胞增多症患者中,此类症状可能导致原发性 MCAS 的诊断。在这些患者中,诊断原发性和继发性 MCAS 混合形式可能具有挑战性。这些患者在接触过敏原时也可能会遭受危及生命的过敏反应。在这些情况下,体内激发的严重副作用的可能性有时也会限制诊断评估。在本文中,我们讨论了患有肥大细胞增多症和并发 MCAS 的患者的诊断和管理,特别强调了新型诊断测试和管理方法,包括过敏原微阵列、重组过敏原分析、嗜碱性粒细胞激活试验、最佳预防措施和特异性治疗。