Abstract：
Idiopathic mast cell activation syndrome (MCAS) is characterized by three diagnostic criteria: (1) episodic mast cell (MC)-driven signs/symptoms of at least two organ systems in the absence of clonal MC expansion and definite triggers, (2) episodic increase in tryptase, and (3) response to MC-targeted treatment. Many patients believe they have MCAS, but how often this is the case remains unknown.
We prospectively investigated patients with suspected MCAS (n = 100) for the diagnostic criteria including baseline tryptase, KIT D816V mutation, and patient-reported outcome measures (PROMs) over the course of 12 weeks. Comorbid depression and anxiety were explored with the Hospital Anxiety and Depression Scale (HADS).
In 53% of our patients (80% females), suspicion of MCAS was based on self-evaluation. In total, patients reported 87 different symptoms, mostly fatigue (n = 57), musculoskeletal pain/weakness (n = 49), and abdominal pain (n = 43), with overall high disease activity and impact. Two of 79 patients had increased tryptase (by >20% +2 ng/ml) following an episode. Only 5%, with any of the PROMs used, showed complete response to MC-targeted treatment. Depression and anxiety disorders were frequent comorbidities (n = 23 each), and 65 patients had pathological HADS values, which were linked to high disease impact and poor symptom control.
Mast cell activation syndrome was confirmed in only 2% of patients, which implies that it is not MC activation that drives signs and symptoms in most patients with suspected MCAS. There is a high need for comprehensive research efforts aimed at the identification of the true underlying pathomechanism(s) in patients with suspected MCAS.
We prospectively investigated patients with suspected MCAS (n = 100) for the diagnostic criteria including baseline tryptase, KIT D816V mutation, and patient-reported outcome measures (PROMs) over the course of 12 weeks. Comorbid depression and anxiety were explored with the Hospital Anxiety and Depression Scale (HADS).
In 53% of our patients (80% females), suspicion of MCAS was based on self-evaluation. In total, patients reported 87 different symptoms, mostly fatigue (n = 57), musculoskeletal pain/weakness (n = 49), and abdominal pain (n = 43), with overall high disease activity and impact. Two of 79 patients had increased tryptase (by >20% +2 ng/ml) following an episode. Only 5%, with any of the PROMs used, showed complete response to MC-targeted treatment. Depression and anxiety disorders were frequent comorbidities (n = 23 each), and 65 patients had pathological HADS values, which were linked to high disease impact and poor symptom control.
Mast cell activation syndrome was confirmed in only 2% of patients, which implies that it is not MC activation that drives signs and symptoms in most patients with suspected MCAS. There is a high need for comprehensive research efforts aimed at the identification of the true underlying pathomechanism(s) in patients with suspected MCAS.
摘要：
特发性肥大细胞活化综合征（MCAS）的特征在于三个诊断标准：（1）在没有克隆MC扩张和明确触发的情况下，至少两个器官系统的偶发性肥大细胞（MC）驱动的体征/症状，（2）类胰蛋白酶的偶发性增加，和(3)对MC靶向治疗的反应。许多患者认为他们有MCAS,但是这种情况多久仍然未知。
我们前瞻性调查了疑似MCAS患者（n=100）的诊断标准，包括基线类胰蛋白酶，试剂盒D816V突变,和12周期间患者报告的结果测量（PROMs）。采用医院焦虑抑郁量表（HADS）对抑郁和焦虑共病进行调查。
在53%的患者（80%为女性）中，对MCAS的怀疑是基于自我评估。总的来说,患者报告了87种不同的症状，主要是疲劳(n=57)，肌肉骨骼疼痛/无力（n=49），和腹痛（n=43），具有总体较高的疾病活动性和影响。79名患者中有2名在发作后具有增加的类胰蛋白酶(>20%+2ng/ml)。只有5%,使用的任何PROM，显示对MC靶向治疗的完全反应。抑郁症和焦虑症是常见的合并症（n=23），65例患者有病理性HADS值，这与高疾病影响和不良症状控制有关。
仅2%的患者证实肥大细胞活化综合征，这意味着大多数疑似MCAS患者的症状和体征不是MC激活。高度需要旨在识别疑似MCAS患者的真实潜在病理机制的全面研究努力。
我们前瞻性调查了疑似MCAS患者（n=100）的诊断标准，包括基线类胰蛋白酶，试剂盒D816V突变,和12周期间患者报告的结果测量（PROMs）。采用医院焦虑抑郁量表（HADS）对抑郁和焦虑共病进行调查。
在53%的患者（80%为女性）中，对MCAS的怀疑是基于自我评估。总的来说,患者报告了87种不同的症状，主要是疲劳(n=57)，肌肉骨骼疼痛/无力（n=49），和腹痛（n=43），具有总体较高的疾病活动性和影响。79名患者中有2名在发作后具有增加的类胰蛋白酶(>20%+2ng/ml)。只有5%,使用的任何PROM，显示对MC靶向治疗的完全反应。抑郁症和焦虑症是常见的合并症（n=23），65例患者有病理性HADS值，这与高疾病影响和不良症状控制有关。
仅2%的患者证实肥大细胞活化综合征，这意味着大多数疑似MCAS患者的症状和体征不是MC激活。高度需要旨在识别疑似MCAS患者的真实潜在病理机制的全面研究努力。
