Cochran Audra L, Coop Christopher, Neaves Brittanie I, Wood Stuart T
Internal Medicine, Keesler Medical Center, Biloxi, USA.
Allergy and Immunology, Keesler Medical Center, Biloxi, USA.
Cureus. 2023 Apr 24;15(4):e38065. doi: 10.7759/cureus.38065. eCollection 2023 Apr.
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.
基础血清类胰蛋白酶(BST)水平升高是肥大细胞活化和整体肥大细胞负荷的标志物。我们报告了一个四口之家,其类胰蛋白酶水平升高至大于或等于20 mcg/L,所有家庭成员均表现出提示肥大细胞活化的体征和症状。鉴别诊断包括遗传性α类胰蛋白酶血症(HaT)、系统性肥大细胞增多症(SM)和肥大细胞活化综合征(MCAS)。在三名个体中,通过骨髓活检形态正常并结合阴性遗传标志物排除了SM。由于在急性发作期间我们急诊科未检测血清类胰蛋白酶水平,因此诊断MCAS需要进一步检查。尽管在初始检查时无法进行HaT的基因检测,但HaT仍是该家族BST升高的最可能原因。