Abstract
INTRODUCTION: Hereditary alpha-tryptasemia (HαT) is associated with postural orthostatic tachycardia syndrome (POTS), hypermobile Ehlers-Danlos syndrome (hEDS), and mast cell activation syndrome (MCAS). While POTS, hEDS, and MCAS have all demonstrated increased prevalence of autoimmunity, this has not been investigated in HαT populations. Our objective was to describe the prevalence of autoantibodies in individuals with HαT. METHODS: We retrospectively studied a cohort of patients with positive genotyping for HαT at a tertiary-care allergy clinic. Demographic data including previous autoimmune history and autoantibody serologies were extracted on chart review. A literature search was conducted to determine the prevalence of specific autoimmune and autoantibody prevalences in the general population. We compared the proportions of autoantibody positivity and established autoimmune diseases in our cohort of HαT individuals against those in general populations. RESULTS: We identified 101 patients with HαT. Median age was 43 years (range 15-75), and most were female (87/101; 86.1%). Prevalence of self-reported drug hypersensitivity was 52/101 (52.5%) patients. The proportion of individuals with HαT with positive tTG antibody (3/61, 4.9%) was significantly higher than that reported in the general population (133/16,667, 0.8%) (p < 0.001). The prevalence of systemic lupus erythematosus (SLE) (1/101, 1%) and celiac disease (5/101, 5%) in our cohort were found to be significantly higher than the prevalence in the general population (194/96,996, 0.2% [p = 0.035] and 26/2,845, 0.9% [p < 0.001], respectively). CONCLUSION: Patients with HαT have increased prevalence of celiac disease, SLE, and positive anti-tTG serology, as well as self-reported drug hypersensitivity, relative to general populations.