The Health Information and Quality Authority (HIQA) has today published a protocol for a health technology assessment (HTA) to review evidence on screening for familial hypercholesterolaemia (FH) in children. This HTA was requested by the National Screening Advisory Committee (NSAC).

FH is an inherited condition characterised by very high lifelong levels of total cholesterol, and specifically, low-density lipoprotein (LDL) cholesterol. High levels of LDL cholesterol can lead to the development of atherosclerotic cardiovascular disease, which includes coronary artery disease, heart attack, stroke, and peripheral artery disease. 

Without screening, FH is often only identified opportunistically during routine blood tests or after a person experiences a cardiovascular event. The focus of this HTA is to support NSAC’s recommendation to the Minister for Health regarding population-based screening for FH in children.

The protocol sets out the scope and evidence synthesis approach HIQA will use to review the evidence on FH screening in children. The HTA will be conducted in two phases. Phase 1 will examine the burden of the disease, description of technology, clinical effectiveness and safety, and ethical considerations. These findings will be incorporated into a report to be reviewed by NSAC. Subject to the findings from Phase 1, and a recommendation by NSAC, a second phase may be undertaken to assess the economic and organisational implications of introducing FH screening in children in Ireland.
Commenting on the protocol, HIQA’s Deputy CEO and Director of Health Technology Assessment, Máirín Ryan, said:

“This protocol outlines the methodological approach our evaluation team will use to synthesise the evidence and develop HIQA’s advice to NSAC. This HTA will look at international practice on screening for FH in children, the burden of disease of FH in Ireland, the current care pathway for FH patients, the effectiveness of early detection and treatment, and the ethical considerations associated with this type of screening. This work will support NSAC’s recommendation on whether to introduce a national population-based screening programme for FH in children in Ireland.”

The protocol for population-based screening for FH in children is now available here. 
The full report is expected to be published in 2026. 

ENDS

Notes for Editor: 

• HIQA has today published the following document:
  • Protocol for HTA of the introduction of population-based screening for FH in children
• The National Screening Advisory Committee (NSAC) was established in 2019 as an independent advisory committee to advise the Minister for Health and Department of Health on all new proposals for population-based screening programmes and revisions to existing programmes. Further information on NSAC is available here.
• HIQA was requested by the Department of Health to provide evidence synthesis support and evidence-based advice to the NSAC under an agreed work programme.
• The aim of screening is to identify people in an apparently healthy population with pre-clinical or asymptomatic disease so that early treatment can be offered, where appropriate.
• The HTA will include a systematic review which will address the following research questions:
  • What is the clinical effectiveness and safety of population-based screening for FH in children compared with no population-based screening?
  • What is the clinical effectiveness and safety of early detection and or treatment compared with late detection and or treatment for FH?
• The report is expected later in 2026. The findings will inform HIQA’s advice to NSAC regarding screening for FH in children. 

About HIQA

The Health Information and Quality Authority (HIQA) is the independent body that promotes safety and quality in the provision of health and social care services in Ireland. 

Through its regulation, standard setting and evidence to inform decision-making functions, HIQA supports health and social care services to consistently deliver excellent standards of care and the best possible health and social care outcomes for all.