The PID Principles of Care: Where Are We Now? A Global Status Report Based on the PID Life Index

Abstract

A global gold standard framework for primary immunodeficiency (PID) care, structured around six principles, was published in 2014. To measure the implementation status of these principles IPOPI developed the PID Life Index in 2020, an interactive tool aggregating national PID data. This development was combined with a revision of the principles to consider advances in the field of health and science as well as political developments since 2014. The revision resulted in the following six principles: PID diagnosis, treatments, universal health coverage, specialised centres, national patient organisations and registries for PIDs. A questionnaire corresponding to these principles was sent out to IPOPI's national member organisations and to countries in which IPOPI had medical contacts, and data was gathered from 60 countries. The data demonstrates that, regardless of global scientific progress on PIDs with a growing number of diagnostic tools and better treatment options becoming available, the accessibility and affordability of these remains uneven throughout the world. It is not only visible between regions, but also between countries within the same region. One of the most urgent needs is medical education. In countries without immunologists, patients with PID suffer the risk of remaining undiagnosed or misdiagnosed, resulting in health implications or even death. Many countries also lack the infrastructure needed to carry out more advanced diagnostic tests and perform treatments such as hematopoietic stem cell transplantation or gene therapy. The incapacity to secure appropriate diagnosis and treatments affects the PID environment negatively in these countries. Availability and affordability also remain key issues, as diagnosis and treatments require coverage/reimbursement to ensure that patients with PID can access them in practice, not only in theory. This is still not the case in many countries of the world according to the PID Life Index. Although some countries do perform better than others, to date no country has fully implemented the PID principles of care, confirming the long way ahead to ensure an optimal environment for patients with PID in every country.

Keywords: PID patient organisations; diagnosis; global PID data; primary immunodeficiency; registries; specialised centres; treatment; universal health care.

Figure 1

Diagnosis Rate of PIDs per National Population* (n=52). * Countries such as Canada, the United States and Australia calculate the number of patients with PIDs based on higher prevalence that includes even asymptomatic antibody deficiencies (IgA) which is not the case in the rest of the world. This explains the score above 100%.

Figure 2

Newborn screening for SCID in the world (n = 60).

Figure 3

IVIg (n=55) and SCIg (n=53) availability at national level.

Figure 4

Availability of HSCT, GT, and thymic transplant (n= 55, 55, 54).

Figure 5

Availability of other treatments for patients with PIDs in individual countries.

Map 1

Universal health coverage of diagnosis and treatments for patients with PIDs (in % of the total cost).

Figure 6

Coverage Levels of Diagnostic Tests (in % of the Total Costs) (n=53, 54, 54).

Map 2

Coverage of anti-infectious therapies for patients with PIDs (in % of the total costs).

Figure 7

Reimbursement of Ig routes for patients with PIDs (in % of the costs) (n=53, n=53, n=54).

Figure 8

Coverage of the different curative treatments for patients with PIDs (in % of the costs) (BMT/HSCT n=53, Gene therapy n=53, Thymus transplant n=51).

Figure 9

Availability of specialist and adult services for PIDs (n=55).

Figure 10

Availability of transition care specialist services for PIDs by region (n=45).

Figure 11

Main areas of concern for PID patient organisations (n=44).

Figure 12

Main working areas for PID patient organisations (n=44).