Contributions
Abstract: EP691
Type: E-Poster Presentation
Session title: Enzymopathies, membranopathies and other anemias
Background
Pyruvate kinase (PK) deficiency is the most common hereditary red cell glycolytic enzyme defect leading to lifelong hemolytic anemia. Despite current supportive interventions, patients (pts) may develop serious complications, such as iron overload, regardless of their age or transfusion history. Information describing the real-world burden of disease among the pediatric population is limited.
Aims
This analysis aimed to characterize the clinical manifestations and disease management strategies for the pediatric cohort (<18 years [yrs]) and the adult cohort (≥18 yrs) with PK deficiency enrolled in the Peak Registry (NCT03481738).
Methods
The Peak Registry is an ongoing, global prospective and retrospective cohort study of adult and pediatric pts diagnosed with PK deficiency. Demographic, medical history, laboratory, and treatment data for this analysis were collected from eligible pts who enrolled in the Registry as of the latest data cut (24Mar2020). All analyses reported are descriptive and based on non-missing data as of the time of enrollment in the Registry. Continuous variables are summarized as means (SD) or medians (range), while categorical variables are summarized as counts and percentages.
Results
A total of 140 pts (56 pediatric and 84 adult) were included in this analysis. The mean age of participants at enrollment was 7.8 yrs (SD 4.6) for the pediatric cohort vs 37.4 yrs (SD 15.5) for adults. Hemoglobin levels (median [range]) were 8.4 g/dL (5.8–12.3) in the pediatric cohort and 9.5 g/dL (6.7–12.9) in adults. Ferritin levels (median [range]) in the pediatric cohort were 772 ng/mL (78–2499) and 404 ng/mL (19–2263) in adults. History of chelation therapy was 50.0% (0–5 yrs), 54.5% (6–11 yrs), and 63.6% (12–17 yrs) in pediatric subgroups and 30.6% in adults. The median age at splenectomy for pediatric and the adult groups were at 5 yrs (2–12 yrs) and 6 yrs (1–27 yrs), respectively. The higher frequency of splenectomy (0% [0–5 yrs], 52.2% [6–11 yrs], 61.5% [12–17 yrs]) with increasing age across pediatric cohorts matches a decreased frequency in those who were treated with regular transfusions (≥6 transfusions within 1 yr prior to enrollment), 46.7% (0–5 yrs), 14.3% (6–11 yrs), and 10.0% (12–17 yrs). The frequency of splenectomy and regular transfusions was similar between the 6–17 yrs old cohort (55.6% and 12.9%) and the adult cohort (51.3% and 9.4%).
Conclusion
This analysis provides early insight into the disease manifestations experienced by pediatric pts with PK deficiency. Prior research has revealed that adult pts with PK deficiency experience a high disease burden. This analysis confirms that complications start early on, with pediatric pts experiencing significant anemia and treatment with transfusions and chelation before age 6. The timing of the decrease in regular transfusions matches the timepoint of an increased frequency of splenectomy, possibly reflecting the known impact of splenectomy on partially ameliorating the anemia in PK deficiency. However, despite the high rate of splenectomy in this cohort, many children and adults continue to have substantial anemia and disease burden. The Registry will continue to collect data in pts to better understand the clinical manifestations and complications of PK deficiency over time.
Keyword(s): Genetic, Hemolytic anemia, Pediatric, Pyruvate kinase deficiency
Abstract: EP691
Type: E-Poster Presentation
Session title: Enzymopathies, membranopathies and other anemias
Background
Pyruvate kinase (PK) deficiency is the most common hereditary red cell glycolytic enzyme defect leading to lifelong hemolytic anemia. Despite current supportive interventions, patients (pts) may develop serious complications, such as iron overload, regardless of their age or transfusion history. Information describing the real-world burden of disease among the pediatric population is limited.
Aims
This analysis aimed to characterize the clinical manifestations and disease management strategies for the pediatric cohort (<18 years [yrs]) and the adult cohort (≥18 yrs) with PK deficiency enrolled in the Peak Registry (NCT03481738).
Methods
The Peak Registry is an ongoing, global prospective and retrospective cohort study of adult and pediatric pts diagnosed with PK deficiency. Demographic, medical history, laboratory, and treatment data for this analysis were collected from eligible pts who enrolled in the Registry as of the latest data cut (24Mar2020). All analyses reported are descriptive and based on non-missing data as of the time of enrollment in the Registry. Continuous variables are summarized as means (SD) or medians (range), while categorical variables are summarized as counts and percentages.
Results
A total of 140 pts (56 pediatric and 84 adult) were included in this analysis. The mean age of participants at enrollment was 7.8 yrs (SD 4.6) for the pediatric cohort vs 37.4 yrs (SD 15.5) for adults. Hemoglobin levels (median [range]) were 8.4 g/dL (5.8–12.3) in the pediatric cohort and 9.5 g/dL (6.7–12.9) in adults. Ferritin levels (median [range]) in the pediatric cohort were 772 ng/mL (78–2499) and 404 ng/mL (19–2263) in adults. History of chelation therapy was 50.0% (0–5 yrs), 54.5% (6–11 yrs), and 63.6% (12–17 yrs) in pediatric subgroups and 30.6% in adults. The median age at splenectomy for pediatric and the adult groups were at 5 yrs (2–12 yrs) and 6 yrs (1–27 yrs), respectively. The higher frequency of splenectomy (0% [0–5 yrs], 52.2% [6–11 yrs], 61.5% [12–17 yrs]) with increasing age across pediatric cohorts matches a decreased frequency in those who were treated with regular transfusions (≥6 transfusions within 1 yr prior to enrollment), 46.7% (0–5 yrs), 14.3% (6–11 yrs), and 10.0% (12–17 yrs). The frequency of splenectomy and regular transfusions was similar between the 6–17 yrs old cohort (55.6% and 12.9%) and the adult cohort (51.3% and 9.4%).
Conclusion
This analysis provides early insight into the disease manifestations experienced by pediatric pts with PK deficiency. Prior research has revealed that adult pts with PK deficiency experience a high disease burden. This analysis confirms that complications start early on, with pediatric pts experiencing significant anemia and treatment with transfusions and chelation before age 6. The timing of the decrease in regular transfusions matches the timepoint of an increased frequency of splenectomy, possibly reflecting the known impact of splenectomy on partially ameliorating the anemia in PK deficiency. However, despite the high rate of splenectomy in this cohort, many children and adults continue to have substantial anemia and disease burden. The Registry will continue to collect data in pts to better understand the clinical manifestations and complications of PK deficiency over time.
Keyword(s): Genetic, Hemolytic anemia, Pediatric, Pyruvate kinase deficiency