OBJECTIVES: Glycogen storage disease type Ia (GSDIa) is a rare inherited disorder in which glucose-6-phosphatase enzyme deficiency prevents normal regulation of blood glucose, leading to risk of acute hypoglycemia and accumulation of liver glycogen. Despite current management requiring patients to consume raw cornstarch, patients present with a variety of comorbidities that can be serious. This retrospective cohort study assessed resource utilization and management costs associated with GSDIa and its complications.

METHODS: PearlDiver Mariner claims database was searched for patients (any age) with GSDI (ICD-10-D-E7401), no diagnoses related to inflammatory bowel disease (indicative of GSDIb), and ≥12 months continuous insurance enrollment from October 2015 through December 2019. Demographics, costs, charge type, and length of stay (LOS) for inpatient events were captured. Number of claims, costs, and LOS information for comorbidities were included only from claims with an ICD-10 diagnosis code in the primary or secondary billing position unless otherwise specified.

RESULTS: In total, 2,641 patients were included (male 67.4%; mean age 26.9 years, standard deviation [SD] 24.3), with mean enrollment of 3.17 years. Overall, 36.3% of patients experienced ≥1 hospitalization during enrollment; mean LOS was 9.7 days/hospitalization (SD 14.8). Common inpatient claims included diagnoses for GSDIa (400), chronic kidney disease (CKD; 184), and acute kidney failure (91). Common outpatient claims included diagnoses for hypertension (6,460), CKD (5,908), and GSDIa (5,152). The highest overall costs per patient (all claims, any billing position) were for those with liver transplant (mean $152,032; SD $200,273), gastrostomy (mean $128,968; SD $212,165), and hepatocellular carcinoma (mean $113,824; SD $121,930).

CONCLUSIONS: Comorbidities associated with GSDIa require substantial resource utilization that results in high healthcare costs. High numbers of outpatient claims are likely a consequence of the chronic progressive nature of the disease. Additionally, patients were more likely to experience extended hospitalizations—most commonly for renal or hepatic complications.