title: Daily life, experience and needs of persons suffering from homozygous familial hypercholesterolaemia: insights from a patient survey.
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.
authors.affiliation: Department of Endocrinology and Cardiovascular Disease Prevention, Hôpital Pitié-Salpêtrière, Paris, France. Electronic address: eric.bruckert@psl.aphp.fr.
authors.forename: Eric
authors.initials: E
authors.lastname: Bruckert
authors.affiliation: Haemobiotherapy Clinical Centre, Hôpital Pitié-Salpêtrière, Paris, France.
authors.forename: Samir
authors.initials: S
authors.lastname: Saheb
authors.affiliation: Cemka Eval, Bourg-La-Reine, France.
authors.forename: Juliette Roth
authors.initials: JR
authors.lastname: Bonté
authors.affiliation: Cemka Eval, Bourg-La-Reine, France.
authors.forename: Carole
authors.initials: C
authors.lastname: Coudray-Omnès
mesh_terms: D000203:Activities of Daily Living; D000293:Adolescent; D000328:Adult; D008078:Cholesterol, LDL / Q000097:blood; D005260:Female; D005500:Follow-Up Studies; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000523:psychology*; D008297:Male; D008875:Middle Aged; D010353:Patient Education as Topic / Q000379:methods*; D011379:Prognosis; D011594:Psychometrics / Q000379:methods*; D011795:Surveys and Questionnaires; D055815:Young Adult
chemical_list: D008078:Cholesterol, LDL
keywords: Burden of disease; Homozygous familial hypercholesterolaemia; Patient survey; Psychosocial factors