The following is a summary of “Mortality among US veterans with a physician-documented diagnosis of pyruvate kinase deficiency,” published in the December 2023 issue of Hematology by Zagadailov et al.

Mortality data for pyruvate kinase (PK) deficiency is still being determined, hindering our understanding of its real-world impact. Researchers conducted a retrospective study to illuminate the survival outcomes of PK deficiency patients compared to a matched control group, shedding light on the real-world impact of this rare condition.

They selected patients with at least one diagnosis code related to PK deficiency from the US Veterans Health Administration (VHA) database (01/1995–07/2019). Patients with a physician-documented PK deficiency diagnosis were included in the cohort, indexed on the date of the first relevant diagnosis code.

The results showed that the PK deficiency cohort (18 patients) was 1:5 matched to the non-PK deficiency cohort (90 individuals) from the general VHA population (index: random visit date during the match’s index year). Both cohorts had a mean age of 57 years, 94% males, and median follow-ups of 6.0 and 8.0 years, respectively. At follow-up, the non-PK deficiency cohort exhibited significantly longer OS (median OS: 17.1 vs. 10.9 years; HR: 2.3; P=0.0306). In the first year post-index, 75% had confirmed anemia, and 40% experienced iron overload in the PK deficiency cohort. The cause of death in deceased patients was diverse.

They concluded that initial real-world study in the VHA revealed heightened mortality and significant clinical burden in PK deficiency patients despite potential limitations in generalizability.

Source: tandfonline.com/doi/full/10.1080/16078454.2023.2290746