ArticleBlood advances2022
Health-related quality of life and fatigue in children and adults with pyruvate kinase deficiency.
Article in Blood advances, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02053480 (Pyruvate Kinase Deficiency), which is not on this map. Cited by 10 papers.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Pyruvate Kinase Deficiency (PKD) Natural History Study
Who cites it
10 citing papers in PubMed, 21 citations in OpenAlex.
- Psychometric validation of the Pyruvate Kinase Deficiency Diary and Pyruvate Kinase Deficiency Impact Assessment in adults in the phase 3 ACTIVATE trial.Journal of patient-reported outcomes · 2023Trial
- Overall Survival of Patients With Pyruvate Kinase Deficiency in the UK: A Real-World Study.EJHaem · 2025Article
- Mitapivat for Acquired Pyruvate Kinase Deficiency.Pediatric blood & cancer · 2025Article
- Pyruvate kinase deficiency andHeliyon · 2024Article
- Updates and advances in pyruvate kinase deficiency.Trends in molecular medicine · 2023Review
- The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry: rationale and study design.BMJ open · 2023Article
- Who should be eligible for gene therapy clinical trials in red blood cell pyruvate kinase deficiency (PKD)?: Toward an expanded definition of severe PKD.American journal of hematology · 2022Review
- Pyruvate Kinase Deficiency: Current Challenges and Future Prospects.Journal of blood medicine · 2022Review
- Mitapivat, a novel pyruvate kinase activator, for the treatment of hereditary hemolytic anemias.Therapeutic advances in hematology · 2021Review
- The variable manifestations of disease in pyruvate kinase deficiency and their management.Haematologica · 2020Article
Corrections and comments
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Authors and funding
14 authors at 13 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pyruvate kinase deficiency (PKD) is the most common cause of congenital nonspherocytic hemolytic anemia. Although recognition of the disease spectrum has recently expanded, data describing its impact on health-related quality of life (HRQoL) are limited. In this prospective international cohort of 254 patients (131 adults and 123 children) with PKD, we used validated measures to assess the impact of disease on HRQoL (EuroQol 5-Dimension Questionnaire, Pediatric Quality of Life Inventory Generic Core Scale version 4.0, and Functional Assessment of Cancer Therapy-Anemia) and fatigue (Patient Reported Outcomes Measurement Information System Fatigue and Pediatric Functional Assessment of Chronic Illness Therapy-Fatigue). Significant variability in HRQoL and fatigue was reported for adults and children, although individual scores were stable over a 2-year interval. Although adults who were regularly transfused reported worse HRQoL and fatigue compared with those who were not (EuroQol-visual analog scale, 58 vs 80; P = .01), this difference was not seen in children. Regularly transfused adults reported lower physical, emotional, and functional well-being and more anemia symptoms. HRQoL and fatigue significantly differed in children by genotype, with the worst scores in those with 2 severe PKLR mutations; this difference was not seen in adults. However, iron chelation was associated with significantly worse HRQoL scores in children and adults. Pulmonary hypertension was also associated with significantly worse HRQoL. Additionally, 59% of adults and 35% of children reported that their jaundice upset them, identifying this as an important symptom for consideration. Although current treatments for PKD are limited to supportive care, new therapies are in clinical trials. Understanding the impact of PKD on HRQoL is important to assess the utility of these treatments. This trial was registered at www.clinicaltrials.gov as #NCT02053480.
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