Using the experiences of people with familial hypercholesterolaemia to help reduce the risk of cardiovascular disease: a qualitative systematic review.

Abstract

This paper presents the results of a systematic review of qualitative studies identifying the experiences and perceptions of people living with familial hypercholesterolaemia.
Familial hypercholesterolaemia is a genetic condition that causes cardiovascular disease and early death. It can be easily diagnosed and treated. Diagnostic rates sit around 20% of the at-risk population in western countries. Screening the relatives of diagnosed people is the best way of identifying those at risk so that, if necessary, treatment can be offered. Presentation for screening can depend on diagnosed people informing relatives of their increased risk and advising them to volunteer for testing. We conducted this review to identify if this approach to screening contributes to low diagnostic and treatment rates.
Searches were made of 11 electronic databases and grey literature from 1990-February 2011.
A systematic review of studies that met the review aim was undertaken. Relevant data were extracted and a narrative synthesis conducted.
Poor health literacy, family and other social dynamics can both impede the ability and reduce the likelihood of diagnosed people approaching and adequately explaining the risk of familial hypercholesterolaemia to relatives. Relatives may misunderstand the significance of their messages or not see them as personally relevant.
To ensure contact takes place and relatives are able to make informed decisions around being tested, expert clinicians must evaluate the health literacy and social contexts of diagnosed people before assigning them responsibility for contacting family and actively provide support and follow up.