PDF(Pubmed)
Abstract：
Elevated basal serum tryptase (BST) levels are markers of both mast cell activation and overall mast cell burden. We present a family of four individuals with elevated tryptase levels greater than or equal to 20 mcg/L, all of whom exhibited signs and symptoms suggestive of mast cell activation. Differential diagnoses included hereditary alpha tryptasemia (HaT), systemic mastocytosis (SM), and mast cell activation syndrome (MCAS). In three individuals, SM was ruled out with normal morphology on bone marrow biopsy combined with negative genetic markers. Further workup would be required for the diagnosis of MCAS since serum tryptase levels were not obtained in our emergency department during acute episodes. Although genetic testing for HaT was not available upon initial workup, HaT remains the most likely explanation for this family\'s elevated BST.
摘要：
基础血清类胰蛋白酶（BST）水平升高是肥大细胞活化和总体肥大细胞负荷的标志。我们提出了一个由四个个体组成的家族，它们的类胰蛋白酶水平高于或等于20mcg/L，所有患者均表现出提示肥大细胞激活的体征和症状。鉴别诊断包括遗传性α型胰蛋白酶血症（HaT），系统性肥大细胞增多症（SM），肥大细胞活化综合征（MCAS）。在三个个体中，排除SM，骨髓活检形态正常，遗传标记阴性。由于在急性发作期间我们的急诊科没有获得血清类胰蛋白酶水平，因此需要进一步的检查来诊断MCAS。尽管在最初的检查中没有HaT的基因检测，HaT仍然是该家族BST升高的最可能的解释。
