Abstract
Background: Glycogen storage disease type Ia (GSDIa) is a rare, inherited metabolic disorder characterized by a deficiency in glucose 6-phosphatase. People living with GSDIa are at high risk for clinical manifestations (including hypoglycemia and hepatomegaly) and clinical complications (including hyperlipidemia, stunted growth, liver adenomas, and renal failure). Evaluating symptom management and secondary care burdens is vital to understanding the patient experience and optimizing care pathways. Objective: We sought to quantify the number of patients with GSDIa within secondary care settings across England and to evaluate the burden of disease associated with living with GSDIa. Methods: This study utilized the United Kingdom Hospital Episode Statistics (HES) database across a 69-month time period (April 2015-December 2020) to investigate National Health Service (NHS) resource use and GSDIa mortality. Results: Patients (N = 943) with GSDIa were identified. Frequent manifestations included anemia (n = 421; 45%), hypoglycemia (n = 185; 20%), and hepatomegaly (n = 152; 16%). On average, patients had a total of 8 events/year, including 2 elective events, 2 nonelective emergencies, 1 outpatient visit, and 3 daycase visits. In the entire HES population, there was approximately 1 (~60% elective, ~40% nonelective) event/year. The highest total number of events across the entire patient journey tracked within the HES occurred with adolescents (12-17 years) who had an average of 28.5 events. Average length of stay was greatest in the pediatric infantile (0-2 years) population with 4.6 days and 3.4 days for nonelective and elective events, respectively. When benchmarked against the general population, patients with GSDIa had a mortality rate of 4.3%, compared with 0.9% for the entire HES population. The average age at mortality was 14.3 years lower for patients with GSDIa vs the entire HES population (63.7 years vs 78.0 years). Discussion: This study demonstrates high burden associated with GSDIa. Complications are a key driver of NHS resource use. Mortality associated with GSDIa in hospitalized patients is higher than the general population. Conclusions: GSDIa imposes a large burden on the healthcare system. There is a clear unmet need for patients with GSDIa, and complications are a substantial driver of resource use and burden of disease.