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

Area of Science:

• Genetics and Immunology
• Gastroenterology
• Cardiology

Background:

• Hereditary alpha-tryptasemia (HαT) is associated with increased risk and severity of anaphylaxis.
• The link between HαT and conditions like hypermobility, gastroparesis, GERD, and POTS is not fully understood.
• No established biochemical or genetic causal link exists between HαT and these comorbidities.

Purpose of the Study:

• To describe the clinical presentation, treatment, and comorbidities of HαT patients.
• To analyze HαT genotypes (2α3β, 3α2β) and their associated clinical characteristics.
• To investigate the prevalence of hypermobility, GERD, and POTS in a diagnosed HαT cohort.

Main Methods:

• Retrospective cross-sectional chart review.
• Analysis of patients testing positive for HαT genotypes within Penn State Health.
• Evaluation of clinical data, diagnoses, and treatment patterns.

Main Results:

• 26.9% of HαT patients had co-occurring hypermobility or POTS.
• 57.7% of patients had GERD.
• Anaphylaxis was reported in 26.9% of patients.
• HαT triplication genotypes correlated with higher prevalence of hypermobility and POTS.
• Patients with triplication were more likely to receive omalizumab or cromolyn treatment.

Conclusions:

• Co-occurring hypermobility, POTS, and GERD in patients with flushing, urticaria, or anaphylaxis warrant HαT investigation.
• HαT genotype may influence comorbidity prevalence and treatment choices.
• Further research is needed to elucidate the relationship between HαT and associated conditions.