Evaluating protocols for identifying and managing patients with FH
Research type
Research Study
Full title
Evaluating alternative protocols for identifying and managing patients with familial hypercholesterolaemia: cost-effectiveness analysis with qualitative study
IRAS ID
214219
Contact name
Nadeem Qureshi
Contact email
Sponsor organisation
The University of Nottingham
Duration of Study in the UK
3 years, 0 months, 0 days
Research summary
Familial Hypercholesterolaemia (FH) is the commonest autosomal dominant disorder with at least 1 in 500 individuals (0.2%) affected by the more common heterozygote form [1, 2]. However 80% of those with the condition are not currently identified [3].
Left untreated, individuals with FH have a dramatically higher risk of coronary heart disease (CHD), with a 100-fold increased mortality risk compared to the general population [4,5]. CHD in people with FH can be very effectively prevented by high intensity lipid lowering treatment, with a 48% reduction in CHD mortality [6]. Moreover, 50% of their first degree relatives and 25% of second degree relatiave will also have the condition and will benefit from intervention.
Cascade testing of relatives is sub-optimal due partly to perceived barriers for specialists to approach relatives directly, particularly if they live in different geographies. Moreover, people with FH are mainly managed by specialist care, despite the potential for greater management in primary care.
This is a multi-centre mixed methods study which includes database analysis, cost-effectiveness analysis, and qualitative interviews. The setting is UK Primary (general practice) and Secondary Care.
The study involves the extraction of routine secondary care NHS data and data from other databases of FH patients to inform the development of economic models for alternative protocols of FH identification and management. The study will compare current practice for cascade testing using differing criteria/thresholds, methods of testing [genetic, low-density lipoprotein (LDL)], direct or indirect contacting of relatives, how far to test family (1st, 2nd, 3rd degree relatives etc.) and how this could be extended beyond specific health regions.
The research team will also interview patients (cases and their relatives) to explore their views about cascade testing approaches they have experienced. NHS staff and stakeholders will also be interviewed to discuss the delivery of the services and how they could be improved.
Research Summary
Familial hypercholesterolaemia 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 familial hypercholesterolaemia (called an index case), their close relatives need to be contacted and checked to see if they have familial hypercholesterolaemia, using genetic or cholesterol testing. This is called ‘cascade testing’. We planned to find the most cost-effective and acceptable way to do this. 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. We found, based on looking at hospital records, that more relatives were tested if health-care professionals directly contacted relatives.
In previous studies, slightly more relatives were tested for familial hypercholesterolaemia with a combination approach. Interviews with patients also suggested that the direct approach was the most effective, but the most acceptable and successful approach depends on family relationships: using one approach for some families and using both for other families.
Furthermore, by looking at the health-care records of large numbers of patients, we confirmed that people with a recorded diagnosis of familial hypercholesterolaemia 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 familial hypercholesterolaemia recorded in their records were not treated within 2 years, with less than one-third reaching recommended cholesterol levels.
We used what we had learned to help us estimate the most cost-effective way to do cascade testing. This showed that if the health service directly contact all relatives simultaneously for further assessment, rather than the current approach whereby close (first-degree) relatives are contacted first, this was cost effective and good value for moneyREC name
East Midlands - Derby Research Ethics Committee
REC reference
17/EM/0209
Date of REC Opinion
14 Jun 2017
REC opinion
Further Information Favourable Opinion