The Journal of Allergy and Clinical Immunology: In Practice
Original ArticleHealth-Related Quality of Life in Children and Adults with Primary Immunodeficiencies: A Systematic Review and Meta-Analysis
Introduction
Primary immunodeficiency diseases (PIDs) are a heterogeneous group of inherited disorders with no less than 300 genetically defined single-gene inborn errors of immunity detected to date.1 Recent data suggest that PID prevalence is much higher than generally thought, with around 6 million people living with a PID worldwide.2 Patients with PID are generally more prone to develop respiratory and gastrointestinal recurrent infections and/or autoimmune diseases.3
PID significantly influences patient life, limiting their working ability and physical and social activities.4, 5 This group of conditions has been linked with a number of negative effects on physical state6, 7 and social activities8 and is associated with increased anxiety9 and fatigue.10 Health-related quality of life (HRQOL) in patients with PID can be also significantly adversely impacted by delays in diagnosis and in treatment for infections.11
HRQOL is not assessed as often as it should be, despite the concept being widely used in research articles.12 Survival rate and number of disease exacerbations are the most frequently used outcome criteria in clinical trials; however, more recently, there has been increasing interest in HRQOL in PID.13 Within other chronic conditions, HRQOL is widely used as one of the most important outcomes in patient-reported outcome measures (PROMs), and is now an essential part of clinical trials, addressing issues of patient satisfaction, compliance with treatment, and treatment preferences. PROMs are normally designed to measure a specific concept in a standardized way, providing a means of quantifying qualitative information.12
HRQOL measures are inherently multidimensional and can be generic or disease specific. A generic measure is a broad outcome indicator including physical, mental, and social health; a specific measure is used to assess the impact of a disease or condition. Generic measures can be used to compare across different types of diseases but often lack the sensitivity or responsiveness needed to pick up small but important changes following an intervention or medical treatment. Evidence shows that HRQOL measures developed specifically for a particular condition are more reliable indicators of the positive and negative impact of that disease and treatment than is clinical opinion or the measurement of objective symptoms.14
Despite an increasing number of articles on HRQOL in patients with PID, far too little attention has been paid to the systematic evaluation of available data. The aim of this systematic review was to provide up-to-date evidence on the HRQOL of patients with PID, on qualitative analysis of actual information, and on identification of the strengths and weaknesses in existing approaches to HRQOL assessment. It is hoped that our findings will provide an impetus for further research in the field and improve our understanding of patient needs.
Section snippets
Search strategy
We followed the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) Statement for Reporting Systematic Reviews and Meta-Analyses (www.prisma-statement.org).15 The review was registered with the National Institute for Health Research's PROSPERO (CRD42017062380). Studies were identified through comprehensive literature searches of OVID MEDLINE and Embase databases from inception to April 11, 2017, using both free text and medical subject headings (MESH) terms. The search
Synthesis
The initial searches found 1699 publications; after removing duplicates (n = 259), 1440 records were identified, and titles and abstracts were screened. Of these, 43 met the inclusion criteria and were eligible for full-text assessment. Six studies were further excluded (Figure 1), with 37 articles included in the qualitative synthesis. Overall, 23 observational4, 6, 7, 8, 9, 10, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 36, 37 and 14 interventional5, 38, 39, 40, 41, 42, 43, 44
Discussion
HRQOL has been found to predict and influence processes and health outcomes and has therefore become an important outcome in medical care and in clinical trials. This systematic review found evidence that HRQOL in children and adults with PID is more adversely impacted than in healthy individuals and people with other chronic conditions, including diabetes mellitus and juvenile idiopathic arthritis. There was general agreement between child- and proxy-reports of HRQOL in PID, except in a
Conclusions
In this systematic review we found that HRQOL in adults and children with PID is more impaired compared with that in healthy individuals and in patients with diabetes mellitus and juvenile idiopathic arthritis. Overall, the quality of the studies was poor to moderate. Recommendations to improve future research include a clear descriptive of the sample, the development and use of disease-specific measures, the use of both parent- and child-report measures where appropriate, longitudinal design
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Cited by (32)
Health-related quality of life in primary immunodeficiencies: Impact of delayed diagnosis and treatment burden
2022, Clinical ImmunologyCitation Excerpt :Many studies tend to utilize generic HRQoL tools when measuring QoL. A more sensitive approach to assess HRQoL and treatment satisfaction in patients with PID may be to use a disease-specific HRQoL tool that is designed to specifically probe the impact of complications and burdens that are relevant to patients with PID – factors that a generic tool may not be sensitive enough to capture [83]. Ballow et al. designed and validated a disease-specific HRQoL instrument to improve clinicians' understanding of patients with PID and help treatment optimization [84].
Immunoglobulin Therapy: Replacement and Immunomodulation
2022, Clinical Immunology: Principles and Practice, Sixth EditionImpact of COVID-19 on Pediatric Immunocompromised Patients
2021, Pediatric Clinics of North AmericaCitation Excerpt :In addition to medical care, continuation of psychosocial services to immunocompromised children and adolescents during this pandemic is vitally important. Patients with immunodeficiency, even before the pandemic, had lower health-related quality of life (HRQoL) than healthy peers and those with other chronic conditions.69 With the onset of COVID-19, a nationwide pediatric healthy cohort of 1586 families from Germany reported lower HRQoL (measured by KIDSCREEN-10), more mental health problems (measured by SDQ), and increased anxiety (measured by SCARED) than before the pandemic.70
Self-reported cognitive impairment in individuals with Primary Immunodeficiency Disease
2020, Brain, Behavior, and Immunity - HealthCitation Excerpt :There is much published research concerning the medical conditions associated with PID and the optimal treatment of PID (Abolhassani et al., 2012; Jolles et al., 2015; Jones et al., 2018; Shrestha et al., 2019). There is also a growing volume of literature related to quality of life for individuals who are diagnosed with PID (Anterasian et al., 2019; Jiang et al., 2015; Peshko et al., 2019; Quinti et al., 2012). However, the literature investigating neurological integrity and cognitive status of individuals diagnosed with PID is sparse.
Consensus of the Italian Primary Immunodeficiency Network on transition management from pediatric to adult care in patients affected with childhood-onset inborn errors of immunity
2020, Journal of Allergy and Clinical ImmunologyCitation Excerpt :CNs are sometimes associated with a multiplicity of syndromic features that may include oculocutaneous albinism, metabolic diseases, and bone marrow failure syndromes. When compared with children without CGD, children with CGD exhibit higher rates of difficulty acquiring social and/or school skills, difficulty establishing peer relationships, and conduct and/or emotional problems.79 In contrast, adults with CGD report greater difficulties in either mental and physical area than adults without CGD do.
Health-related quality of life in patients with inborn errors of immunity: a bibliometric analysis
2024, Frontiers in Immunology
Conflicts of interest: I. Quinti received consultancy fees from receipt of consultation fees and grants by Shire, CSL Behring, Octapharma, and Kedrion. O. Blyuss acknowledges support from Russia (grant no. 074-02-2018-330). A. Dunn Galvin serves as a consultant for DBV Technologies and Aimmune Therapeutics. D. Munblit has received consultancy payment from Dairy Goat Co-Operative (NZ) Ltd; has given paid lectures for Merck Sharp & Dohme and Bayer; and also acknowledges the reception of funding from the «5-100» Russian Academic Excellence Project. The rest of the authors declare that they have no relevant conflicts of interest.
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These authors contributed equally to this work.