Describing Clinical Characteristics and Treatment Course of Patients with Hereditary Alpha-tryptasemia: A Single-center Study

Patients with hereditary alpha-tryptasemia (HαT) have been shown not only to be more prone to anaphylaxis but also to more severe reactions. The relationship between hypermobility, gastroparesis, gastroesophageal reflux disease (GERD), postural orthostatic tachycardia syndrome (POTS), and HαT has been variably described in the literature although no causal biochemical or genetic link has been identified. Herein, we sought to describe the clinical presentation, treatment, and co-morbidities of patients diagnosed with HαT within the Penn State Health System. Through a retrospective cross-sectional chart review, we report the clinical and therapeutic characteristics of patients who tested positive for HαT genotypes (2α3β, 3α2β) within Penn State Health. Twenty-six percent of patients within our cohort had co-occurring diagnoses of hypermobility (7, 26.9%), or POTS (7, 26.9%) while more than half of patients had GERD (15, 57.7%). Anaphylaxis was reported among 7 (26.9%) with the average number of anaphylactic episodes per patient prior to HαT identification being less than one. Patients with triplication had higher prevalence of hypermobility and POTS and were more likely to receive treatment with omalizumab or cromolyn. Co-morbid hypermobility, POTS and GERD in patients with flushing, urticaria, or anaphylaxis should warrant further investigation for HαT.