Background: Propionic acidemia (PA) is a rare genetic disease caused by a deficiency of the propionyl-CoA carboxylase enzyme. It results in impaired propionate metabolism and accumulation of toxic metabolites in infancy and childhood; with a potential risk of debilitating end-organ damage. Currently, information describing characteristics of PA patients is limited and is primarily derived from small case series.
Objectives: To describe the clinical and demographic profiles of patients diagnosed with PA using TriNetX, a large US-based real-world data (RWD) source of electronic health records (EHR).
Methods: This prevalent cohort study identified patients using an ICD-10 diagnosis code for PA (E71.121) in a structured dataset. Patients entered the cohort upon a first-recorded PA diagnosis between 01/2015 and 04/2022. Demographics and frequencies of known PA-related comorbidities and treatments (established a priori) were evaluated on all available health record data, including before 1/2015 as available. The top-occurring treatments, co-diagnoses, and procedures (commonly identified in real-world clinical care) were also explored.
Results: The study included 269 patients with PA ( < 18 years: 121, 45.0%; ≥18 years: 148, 55.0%). The most common PA-related complications/comorbidities that were observed in >20% of the study population included cytopenia (58.0%), protein intolerance (55.0%), chronic vomiting (53.2%), chronic renal failure/kidney disease (53.2%), anemia (51.3%), and epilepsy/seizures (49.1%). Fever (40.5%) and cough (34.9%) were common in explorations of top-occurring diagnoses. The three most frequent PA-related treatments were antibiotics (75.5%), antioxidants (45.7%), and carnitine supplementation (39.0% total, 65.3% in < 18).
Conclusions: This novel RWD study describes the largest single cohort of US PA patients reported to date, providing insight into PA patient characteristics, frequency of key clinical outcomes and treatment patterns within the EHR care setting.
