Humanistic and Economic Burden of Pyruvate Kinase Deficiency: A Systematic Review of Literature

OBJECTIVES: To identify the published literature assessing humanistic and economic burden of Pyruvate kinase deficiency (PKD).

METHODS: A systematic literature search was conducted in Embase^® and MEDLINE^® upto May 2022 to identify relevant articles reporting the health-related quality of life (HRQoL) and economic burden (EB) of PKD. Studies were included if they were published in English. No further restrictions were applied.

RESULTS: Of the initial 413 retrieved publications, only 8 studies were finally included comprising of 3 full text publications, and 5 conference presentations. Of these 8 studies, 6 discussed adult patients, 1 studied paediatric population, and 1 discussed both. Three studies were based on standardised questionnaire for assessment of HRQoL (EuroQol-5D, PedsQL, FACT-An: twice each), 3 were interviews (one reported development of disease specific assessments which included PK Deficiency Diary (PKDD) and PK Deficiency Impact Assessment (PKDIA) and two utilized ADL for measurement of HRQoL). Another RCT study used PKDD and PKDIA to assess the comparison between mitapivat and placebo, where mitapivat improved the patient reported outcomes. The remaining cross sectional observational study showed the importance of social/family well-being for HRQoL of patients. Six studies of the 7 involving adult patients, reported that HRQoL is lower in regularly transfused (RT) patients. One study reported that the lifetime EB of PKD is substantial in the US in both paediatric and adult populations. In adult population, largest proportion of direct cost coming from RT and chelation therapies, and indirect costs were higher in the not regularly transfused (NRT) or never transfused (NT) populations.

CONCLUSIONS: The identified evidence concluded that for assessing humanistic burden in PKD, disease specific tools like PKDD and PKDIA are more effective than generic tools. Additionally, social/family support is an important factor for improved HRQoL. HRQoL is lower in RT patients, however EB is higher in all RT, NRT or NT populations.