Daily life, experience and needs of persons suffering from homozygous familial hypercholesterolaemia: Insights from a patient survey

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Abstract

Homozygous familial hypercholesterolaemia (HoFH) is a rare and severe hereditary lipid disorder that is typically associated with high serum levels of low-density lipoprotein cholesterol (LDL-C). Excessive exposure to high levels of LDL-C puts affected individuals at very high risk of premature onset coronary heart disease, and this considerably limits life expectancy. Although the clinical features and treatment of HoFH have been extensively researched, societal and socio-psychological impacts of the disease have not been reported to date. The current study was conducted to investigate the burden of disease and treatment from the patient's perspective by means of semi-structured interviews with 24 HoFH patients. The findings of the survey indicate that HoFH represents a considerable burden for patients, not only due to physical signs and limitations caused by the disease but also a number of psychosocial factors, treatment-related issues and impact on their education and employment situation.

Introduction

Homozygous familial hypercholesterolaemia (HoFH) is a rare and severe hereditary lipid disorder that is typically associated with high serum levels of low-density lipoprotein cholesterol (LDL-C). However, levels of serum LDL-C show considerable variability, depending on the genetic defect and whether or not the patient is receiving lipid-lowering treatment. Reports from the literature suggest that LDL-C levels in HoFH can reach around 450–1000 mg/dL, and that treatment can reduce this to between 220 and 600 mg/dL [1], [2], [3].

The impact of HoFH on morbidity and mortality is well documented. Excessive exposure to high levels of LDL-C puts affected individuals at very high risk of premature onset coronary heart disease, and this considerably limits life expectancy [4], [5], [6].

The clinical features and treatment of HoFH have been extensively researched. A review of literature indexed on PubMed performed in March 2013 identified a total of 1185 publications on HoFH [7]. These were mainly related to the diagnostic criteria, aetiology, clinical presentation, management, treatment options, epidemiology and economic burden. Despite data having been collected on a wide variety of HoFH related topics, societal and socio-psychological impacts of the disease have not been reported to date. Moreover, the literature search did not identify any studies detailing the experience of persons affected by HoFH (Health-Related Quality of Life Patients Reported Outcomes). To address this shortfall, the burden of HoFH and its treatment was investigated from the patient's perspective in a research study conducted at the Haemobiotherapy Clinical Centre, Hôpital Pitié-Salpêtrière, which receives the majority of HoFH cases in France.

Section snippets

Development of questionnaire and recruitment and selection of interviewees

An interview questionnaire was developed to understand what daily life with HoFH is like, focussing on the personal, familial, social and psychological impact of the disease.

The investigating physicians identified persons meeting the inclusion criteria and invited them to participate in the survey. The study included adult HoFH patients aged over 18 years who had given written informed consent for data to be collected and used anonymously within the context of this survey.

Interview methodology and analysis

Semi-structured

Patient profiles

Twenty-four interviews were conducted with 13 women and 11 men aged 18–54 years who had attended for apheresis at the centre for several years. Four patient profiles were identified from the 24 interviews.

  • 1.

    Patients who considered themselves as “not ill” (n = 2). These were patients diagnosed with HoFH who were immigrants to France, arriving in the country at around 20 years of age. The treatments that they received since arriving in France (medicines, apheresis and cardiac surgery) have had an

Discussion

There is a paucity of information regarding the burden of HoFH. The findings of this survey indicate that HoFH represents a considerable burden for patients, not only due to physical signs and limitations caused by the disease but also a number of psychosocial factors, treatment-related issues and impact on their education and employment situation.

LDL apheresis is now an established therapy for HoFH [8]. An evidence-based analysis of LDL apheresis concluded that for patients with HoFH “the

Conflict of interest

CCO and JB are employees of CEMKA-EVAL which conducted the survey with funds by Aegerion Pharmaceuticals. The sponsor had no role in the study design or in the collection, analysis and interpretation of data. They have no other competing interests.

EB declares having received honoraria for consultancy or speaker activity from Danone, Unilever, Amgen, Aegerion, MSD, Astra Zeneca, Genfit, Sanofi-Regeneron.

SH has no conflict of interest.

Acknowledgements

This survey was supported by a grant from Aegerion Pharmaceuticals Inc.

References (15)

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