Alternative cascade-testing protocols for identifying and managing patients with familial hypercholesterolaemia: systematic reviews, qualitative study and cost-effectiveness analysis

The PRISM Research Group in the University of Nottingham have had an HTA study, led by Professor Qureshi, published on the NIHR Journals Library website: "Alternative cascade-testing protocols for identifying and managing patients with familial hypercholesterolaemia: systematic reviews, qualitative study and cost-effectiveness analysis”. 

Familial hypercholesterolaemia (FH) is an inherited condition that causes raised cholesterol levels from birth and increases risk of heart disease if left untreated. After someone in a family is found to have FH (called an index case), their close relatives need to be contacted and checked to see if they have FH, using genetic or cholesterol testing. This is called ‘cascade testing’. In the study the researchers planned to find the most cost-effective and acceptable cascade screening protocol. 

Key findings: The relatives could be contacted for testing by the index case (indirect approach), by a health-care professional (direct approach) or by a combination of both approaches. Overall it was found that the most acceptable and successful approach depends on family relationships: using one approach for some families and using both for other families. 

Using a primary care database (CPRD) and specialist FH register data, they confirmed that people with a recorded diagnosis of FH in general practice records have a much higher risk of heart disease than the general population, and this was especially so for those with previous heart disease and/or raised cholesterols levels when diagnosed. However, one-quarter of new patients with FH recorded in their records were not treated within 2 years, with less than one-third reaching recommended cholesterol levels. 

The most cost-effective way to do cascade testing was if the health service directly contacts all relatives simultaneously for further assessment, rather than the current approach whereby close (first-degree) relatives are contacted first. 

The full report can be read here: 

Citation: Qureshi N, Woods B, Neves de Faria R, Saramago Goncalves P, Cox E, Bee JL, et al. Alternative cascade-testing protocols for identifying and managing patients with familial hypercholesterolaemia: systematic reviews, qualitative study and cost-effectiveness analysis. Health Technol Assess 2023;27(16)