Familial hypercholesterolaemia reduces the quality of life of patients not reaching treatment targets

TY - JOUR

T1 - Familial hypercholesterolaemia reduces the quality of life of patients not reaching treatment targets

AU - Mortensen, Gitte Lee

AU - Madsen, Ivan Bredbjerg

AU - Kruse, Charlotte

AU - Bundgård, Henning

PY - 2016/5

Y1 - 2016/5

N2 - Introduction: Familial hypercholesterolaemia (FH) is the most common monogenic disorder associated with premature cardiovascular disease. If untreated, life expectancy in heterozygous FH patients is shortened by 20-30 years compared with the general population. Nevertheless, treatment goals are only met in approximately 50% of patients. This comparative study examined the quality of life (QoL) impact of FH in patients who had and had not reached the target of treatment. Methods: Two qualitative focus group interviews were carried out with a total of ten FH patients. A semi-structured interview guide included questions identified in a preceding literature study. The data were analysed using a medical anthropological approach. Results: While having FH did not have much impact on well-treated patients’ QoL, patients who had not reached the treatment target had markedly more concerns. They had experienced severe side-effects and worried about their own and their relatives’ health. They were concerned about the long-term impact of not being effectively treated including the risk that coronary heart disease could cause their premature death or disability and inability to care for their children, in particular. The women had issues with stigma and self-efficacy. ConclusionS: The QoL impact of FH is related to treatment efficacy. These findings need to be addressed in the management of FH patients. Particular attention should be paid to those who are not presently reaching the target of treatment.

AB - Introduction: Familial hypercholesterolaemia (FH) is the most common monogenic disorder associated with premature cardiovascular disease. If untreated, life expectancy in heterozygous FH patients is shortened by 20-30 years compared with the general population. Nevertheless, treatment goals are only met in approximately 50% of patients. This comparative study examined the quality of life (QoL) impact of FH in patients who had and had not reached the target of treatment. Methods: Two qualitative focus group interviews were carried out with a total of ten FH patients. A semi-structured interview guide included questions identified in a preceding literature study. The data were analysed using a medical anthropological approach. Results: While having FH did not have much impact on well-treated patients’ QoL, patients who had not reached the treatment target had markedly more concerns. They had experienced severe side-effects and worried about their own and their relatives’ health. They were concerned about the long-term impact of not being effectively treated including the risk that coronary heart disease could cause their premature death or disability and inability to care for their children, in particular. The women had issues with stigma and self-efficacy. ConclusionS: The QoL impact of FH is related to treatment efficacy. These findings need to be addressed in the management of FH patients. Particular attention should be paid to those who are not presently reaching the target of treatment.

KW - Adolescent

KW - Adult

KW - Aged

KW - Cardiovascular Diseases

KW - Child

KW - Early Diagnosis

KW - Female

KW - Focus Groups

KW - Humans

KW - Hyperlipoproteinemia Type II

KW - Life Expectancy

KW - Male

KW - Medication Adherence

KW - Middle Aged

KW - Patient Acceptance of Health Care

KW - Qualitative Research

KW - Quality of Life

KW - Risk Factors

KW - Young Adult

KW - Comparative Study

KW - Journal Article

M3 - Journal article

C2 - 27127013

SN - 2245-1919

VL - 63

JO - Danish Medical Journal

JF - Danish Medical Journal

IS - 5

M1 - A5224

ER -