OBJECTIVES : Understanding impact of phenylketonuria (PKU) on patients and healthcare system needs to consider exhaustive healthcare consumptions of PKU patients. This study aimed at evaluating the health economic impact of PKU in France.

METHODS : This retrospective observational study used health insurance claims data from the French database SNDS, which contains over 66 million French inhabitants. PKU patients were identified between 2006-2018 by ICD diagnosis codes E70.0 or E70.1 documented as chronic condition (affection de longue durée – ALD) or in the inpatient setting. PKU patients alive and aged ≥16 years on 01JAN2018 were included and matched to controls regarding age, gender, and region. Outcomes were analysed for the year 2018.

RESULTS : Overall, 1,911 PKU patients aged 16 years or older were matched to 9,505 controls. The PKU cohort included patients born before and after implementation of newborn screening in France in 1972. Mean age of the population was 41.2 years (±21.3 years) and 56.2% were female. On average, total healthcare costs reimbursed for PKU patients were approximately five times higher than for matched non-PKU controls (€9,937 vs €1,972; p<0.0001). Pharmaceutical (69.9%) and inpatient costs (19.9%) accounted for most of the overall cost difference (€7,965). Around half of the pharmaceutical costs (51.9%) in the PKU cohort were attributable to dietary amino acid supplements (DAS). More PKU patients were hospitalized at least once in 2018 (29.3% vs 18.1%; p<0.0001). If hospitalized, PKU patients had more stays (3.3 vs 1.8 hospitalizations; p<0.001) and also longer stays (7.3 vs 4.6 days; p=0.0007).

CONCLUSIONS : The study indicated higher healthcare costs and resource use for PKU patients in France compared with the general population. These incremental costs were mainly driven by pharmaceutical (including DAS) and inpatient costs.