Quality of life and coping in Dutch homozygous familial hypercholesterolemia patients: A qualitative study

Janneke W C M Mulder; Leonieke W Kranenburg; Willemijn J Treling; G Kees Hovingh; Joost H W Rutten; Jan J Busschbach; Jeanine E Roeters van Lennep

doi:10.1016/j.atherosclerosis.2022.03.015

Quality of life and coping in Dutch homozygous familial hypercholesterolemia patients: A qualitative study

Atherosclerosis. 2022 May:348:75-81. doi: 10.1016/j.atherosclerosis.2022.03.015. Epub 2022 Mar 12.

Authors

Janneke W C M Mulder¹, Leonieke W Kranenburg², Willemijn J Treling², G Kees Hovingh³, Joost H W Rutten⁴, Jan J Busschbach², Jeanine E Roeters van Lennep⁵

Affiliations

¹ Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, the Netherlands.
² Department of Psychiatry, Section Medical Psychology and Psychotherapy, Erasmus University Medical Center, Rotterdam, the Netherlands.
³ Department of Vascular Medicine, Amsterdam University Medical Center, Amsterdam, the Netherlands.
⁴ Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands.
⁵ Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, the Netherlands. Electronic address: j.roetersvanlennep@erasmusmc.nl.

PMID: 35361489
DOI: 10.1016/j.atherosclerosis.2022.03.015

Abstract

Background and aims: Homozygous familial hypercholesterolemia (HoFH) is characterized by severely elevated low-density lipoprotein cholesterol (LDL-C) levels leading to extremely premature atherosclerotic cardiovascular disease. Therefore, healthcare professionals consider HoFH to have major impact on patients' life. Remarkably, little is known on how patients deal with their condition. The aim of this study is to investigate how Dutch patients experience and cope with HoFH in daily life.

Methods: Adult patients with genetically confirmed HoFH, treated at the 3 specialized HoFH-centers in the Netherlands, were interviewed in-depth. Interview transcripts were analyzed according to grounded theory. Health-related quality of life (QoL) and coping were measured with the EuroQol (EQ)-5D-5L questionnaire and the Threatening Medical Situations Inventory (TMSI), respectively.

Results: 20 Dutch HoFH patients were interviewed: 50% women, median age 38 years, 60% with cardiovascular disease, 10% on apheresis. Coding of the transcripts resulted in a conceptual model, with disease perception as the central theme. Individual TMSI-results corresponded to the interviews, with most patients showing both monitoring (information-seeking behavior) and blunting (distractive strategies) coping styles. The median EQ-5D-5L health utility score (0.839) was only 5% below the Dutch population (0.887). Transient anxiety was reported when confronted with the consequences of HoFH in daily life. Patients reported high confidence in treatment by a dedicated HoFH center, which helped them cope with their disease.

Conclusions: Dutch HoFH patients use a variety of effective coping mechanisms in such a way that their subjective QoL is only slightly affected. Healthcare professionals can use this knowledge to tailor their care to the specific needs of these patients.

Keywords: Coping; Familial hypercholesterolemia; Homozygous familial hypercholesterolemia; Qualitative research; Quality of life.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adaptation, Psychological
Adult
Cardiovascular Diseases*
Female
Homozygote
Homozygous Familial Hypercholesterolemia*
Humans
Hyperlipoproteinemia Type II* / diagnosis
Hyperlipoproteinemia Type II* / genetics
Hyperlipoproteinemia Type II* / therapy
Male
Quality of Life