OBJECTIVES: Pyruvate kinase (PK) deficiency is a rare, inherited disorder caused by autosomal recessive mutations in the PKLR gene. There are no approved pharmacotherapies for PK deficiency. This study used data from a a large US electronic health record (EHR) database to summarize the clinical characteristics and healthcare resource use (HCRU) of patients with PK deficiency.

METHODS: Patients with ≥1 PK deficiency-related diagnosis code (ICD-9: 282.3, 282.9; ICD-10: D55.2, D55.8, D55.9, D58.9, E74.4) and ≥1 provider note from 01/01/2007–12/31/2019 were reviewed. Patients with a documented diagnosis of PK deficiency and ≥12 months of follow-up after the index date (defined as the earliest date with a PK deficiency-related diagnosis code) were included. Patient characteristics and HCRU were analyzed descriptively.

RESULTS: Forty patients met the inclusion criteria (mean [SD] age: 27 [22] years, 60.0% male, mean [SD] follow-up: 5.1 [2.7] years). During the 12-month follow-up period, 8 patients (20.0%) received a transfusion, of whom 4 had ≥6 transfusions, and 23 patients (57.5%) had a hemoglobin (Hb) result, of whom 11 had at least 1 Hb result <10 g/dL during that year. The majority of patients (80%) had at least 1 ambulatory care visit (median: 8 visits), and 22.5% of patients had at least 1 emergency room visit (median: 1 visit) during the 12-month follow-up period. Seven of 40 patients (17.5%) had at least 1 inpatient admission during the 12-month follow-up period, with a median length of stay of 6 days.

CONCLUSIONS: This study is the first to describe HCRU of patients with PK deficiency using EHR data in the United States. Although the cohort sample is small and the study was conducted in an open system database, the results suggest moderate-to-severe anemia and substantial HCRU in patients with PK deficiency.