Weinstock Leonard B, Nelson Renee M, Blitshteyn Svetlana
Independent Researcher, Specialists in Gastroenterology, St. Louis, MO 63141, USA.
Department of Neurology, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY 14203, USA.
J Pers Med. 2023 Oct 31;13(11):1562. doi: 10.3390/jpm13111562.
Mast cell activation syndrome (MCAS) is an immune disease with an estimated prevalence of 17%. Mast cell chemical mediators lead to heterogeneous multisystemic inflammatory and allergic manifestations. This syndrome is associated with various neurologic and psychiatric disorders, including headache, dysautonomia, depression, generalized anxiety disorder, and many others. Although MCAS is common, it is rarely recognized, and thus, patients can suffer for decades. The syndrome is caused by aberrant mast cell reactivity due to the mutation of the controller gene. A case series is presented herein including eight patients with significant neuropsychiatric disorders that were often refractory to standard medical therapeutics. Five patients had depression, five had generalized anxiety disorder, and four had panic disorder. Other psychiatric disorders included attention-deficit hyperactivity disorder, obsessive compulsive disorder, phobias, and bipolar disorder. All eight patients were subsequently diagnosed with mast cell activation syndrome; six had comorbid autonomic disorders, the most common being postural orthostatic tachycardia syndrome; and four had hypermobile Ehlers-Danlos syndrome. All patients experienced significant improvements regarding neuropsychiatric and multisystemic symptoms after mast-cell-directed therapy. In neuropsychiatric patients who have systemic symptoms and syndromes, it is important to consider the presence of an underlying or comorbid MCAS.
肥大细胞活化综合征(MCAS)是一种免疫疾病,估计患病率为17%。肥大细胞化学介质会导致多种多系统炎症和过敏表现。该综合征与多种神经和精神障碍有关,包括头痛、自主神经功能障碍、抑郁症、广泛性焦虑症等。尽管MCAS很常见,但很少被识别,因此患者可能会遭受数十年的痛苦。该综合征是由控制基因突变导致肥大细胞反应异常引起的。本文介绍了一个病例系列,包括八名患有严重神经精神障碍的患者,这些障碍通常对标准药物治疗无效。五名患者患有抑郁症,五名患有广泛性焦虑症,四名患有惊恐障碍。其他精神障碍包括注意力缺陷多动障碍、强迫症、恐惧症和双相情感障碍。所有八名患者随后均被诊断为肥大细胞活化综合征;六名患者合并自主神经功能障碍,最常见的是体位性直立性心动过速综合征;四名患者患有可弯曲性埃勒斯-当洛综合征。在接受针对肥大细胞的治疗后,所有患者的神经精神和多系统症状都有显著改善。对于有全身症状和综合征的神经精神患者,考虑是否存在潜在的或合并的MCAS很重要。