Department of Neurology, Brigham and Women's Hospital, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts.
Harvard Medical School, Boston, Massachusetts; Division of Allergy and Clinical Immunology, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts.
Ann Allergy Asthma Immunol. 2022 Mar;128(3):299-306.e1. doi: 10.1016/j.anai.2021.10.006. Epub 2021 Oct 11.
Mast cell disorders including hereditary alpha tryptasemia (HαT) and idiopathic mast cell activation syndrome (MCAS) can be associated with neurologic symptoms such as orthostatic intolerance, pain, and cognitive impairment. The origin of these symptoms is not well understood.
To characterize neurologic findings in patients with HαT and MCAS through objective measurements.
Patients with a confirmed diagnosis of HαT or MCAS with neurologic symptoms were referred for standardized autonomic testing encompassing Valsalva maneuver, deep breathing, sudomotor and tilt tests with cerebral blood flow velocity (CBFv) determination, and skin biopsies for small fiber neuropathy (SFN).
There were 15 patients with HαT (age 44.4 ± 15.9 years), 16 with MCAS (34.4 ± 15.5), and 14 matched controls who were evaluated. Baseline serum tryptase level was increased in patients with HαT when compared with patients with MCAS (14.3 ± 2.5 ng/mL vs 3.8 ± 1.8; P <.001) and neurologic symptoms were similar between the 2 groups. When compared with controls, orthostatic CBFv was reduced in HαT (-24.2 ± 14.3%; P <.001) and MCAS (-20.8 ± 5.5%; P <.001). Reduced nerve fibers consistent with SFN were found in 80% of patients with HαT and 81% of those with MCAS. Mild-to-moderate dysautonomia was detected in all patients with HαT and MCAS when results of sympathetic, parasympathetic, and sudomotor tests were combined.
We provide evidence of reduced orthostatic CBFv and SFN associated with mild-to-moderate autonomic dysfunction in patients with HαT and MCAS. Our findings suggest that comprehensive autonomic testing may be helpful to explain neurologic symptoms and guide treatment in patients with HαT and MCAS.
肥大细胞疾病包括遗传性α-胰蛋白酶血症（HαT）和特发性肥大细胞激活综合征（MCAS）可与直立不耐受、疼痛和认知障碍等神经系统症状相关。这些症状的起源尚不清楚。
通过客观测量来描述 HαT 和 MCAS 患者的神经系统表现。
患有确诊的 HαT 或 MCAS 且伴有神经系统症状的患者被转介进行标准化自主神经测试，包括瓦尔萨尔瓦动作、深呼吸、出汗和倾斜试验以确定脑血流速度（CBFv），以及皮肤活检以确定小纤维神经病（SFN）。
共评估了 15 例 HαT 患者（年龄 44.4 ± 15.9 岁）、16 例 MCAS 患者（34.4 ± 15.5 岁）和 14 例匹配的对照者。与 MCAS 患者相比，HαT 患者的基础血清胰蛋白酶水平升高（14.3 ± 2.5ng/mL 比 3.8 ± 1.8ng/mL；P<.001），且两组的神经系统症状相似。与对照组相比，HαT（-24.2 ± 14.3%；P<.001）和 MCAS（-20.8 ± 5.5%；P<.001）患者的直立时 CBFv 降低。80%的 HαT 患者和 81%的 MCAS 患者发现有与 SFN 一致的神经纤维减少。当结合交感神经、副交感神经和出汗测试的结果时，所有 HαT 和 MCAS 患者均存在轻度至中度自主神经功能障碍。
我们提供了证据表明，HαT 和 MCAS 患者存在直立时 CBFv 降低和 SFN，以及轻度至中度自主神经功能障碍。我们的研究结果表明，全面的自主神经测试可能有助于解释 HαT 和 MCAS 患者的神经系统症状并指导治疗。
