Sex differences in the presentation, treatment and outcomes of patients with homozygous familial hypercholesterolemia.

Cardiovascular outcomes Homozygous familial hypercholesterolemia Lipid lowering therapies Registry-based studies Sex differences

Journal

Journal of clinical lipidology
ISSN: 1933-2874
Titre abrégé: J Clin Lipidol
Pays: United States
ID NLM: 101300157

Informations de publication

Date de publication:
14 Jan 2024
Historique:
received: 17 11 2023
revised: 02 01 2024
accepted: 05 01 2024
medline: 29 1 2024
pubmed: 29 1 2024
entrez: 28 1 2024
Statut: aheadofprint

Résumé

Homozygous familial hypercholesterolemia (HoFH) is a rare, autosomal semi-dominant lipid metabolism disorder characterized by extremely high LDL-C levels and premature cardiovascular disease. The objective of this study was to investigate sex-differences in the treatment and outcomes of patients with HoFH. We examined clinical characteristics, lipid-lowering therapy (LLT), and cardiovascular events using descriptive statistics of patients in the Canadian HoFH registry. Major adverse cardiovascular events (MACE) were defined as the composite of cardiovascular death, non-fatal myocardial infarction, and stroke. Sex differences between continuous and categorical variables were analyzed using Mann-Whitney U test and Fisher's Exact test, respectively. This study included 48 patients (27 (56%) female). The median age at diagnosis in females was 14.0 (IQR 9.0-30.0) and in males was 8.0 (IQR 2.0-23.0) (p = 0.07). Baseline clinical characteristics were comparable between both sexes. The median baseline LDL-C was 12.7 (10.0-18.3) in females and 15.3 (10.5-20.0) in males (p = 0.51). Follow up LDL-C levels was 7.6 mmol/L (IQR 4.8-11.0) in females and 6.3 (IQR 4.6-7.5) in males (p = 0.1). Most patients were taking 3 or more LLTs, with comparable proportions in both sexes (p = 0.26). Apheresis was similar in both sexes, 14 (51.8%) vs. 10 (47.6%), p = 0.2. Over a mean of 10 years of follow-up, MACE occurred in 3 females (11.1%) and 4 males (19.1%) (p = 0.2). Lipid levels and treatment were similar between sexes. MACE occurred in similar proportions between sexes, indicating that HoFH offsets the inherently lower cardiovascular risk in pre-menopausal females. Further investigation into sex-differences in HoFH in larger sample sizes is warranted.

Sections du résumé

BACKGROUND BACKGROUND
Homozygous familial hypercholesterolemia (HoFH) is a rare, autosomal semi-dominant lipid metabolism disorder characterized by extremely high LDL-C levels and premature cardiovascular disease. The objective of this study was to investigate sex-differences in the treatment and outcomes of patients with HoFH.
METHODS METHODS
We examined clinical characteristics, lipid-lowering therapy (LLT), and cardiovascular events using descriptive statistics of patients in the Canadian HoFH registry. Major adverse cardiovascular events (MACE) were defined as the composite of cardiovascular death, non-fatal myocardial infarction, and stroke. Sex differences between continuous and categorical variables were analyzed using Mann-Whitney U test and Fisher's Exact test, respectively.
RESULTS RESULTS
This study included 48 patients (27 (56%) female). The median age at diagnosis in females was 14.0 (IQR 9.0-30.0) and in males was 8.0 (IQR 2.0-23.0) (p = 0.07). Baseline clinical characteristics were comparable between both sexes. The median baseline LDL-C was 12.7 (10.0-18.3) in females and 15.3 (10.5-20.0) in males (p = 0.51). Follow up LDL-C levels was 7.6 mmol/L (IQR 4.8-11.0) in females and 6.3 (IQR 4.6-7.5) in males (p = 0.1). Most patients were taking 3 or more LLTs, with comparable proportions in both sexes (p = 0.26). Apheresis was similar in both sexes, 14 (51.8%) vs. 10 (47.6%), p = 0.2. Over a mean of 10 years of follow-up, MACE occurred in 3 females (11.1%) and 4 males (19.1%) (p = 0.2).
CONCLUSION CONCLUSIONS
Lipid levels and treatment were similar between sexes. MACE occurred in similar proportions between sexes, indicating that HoFH offsets the inherently lower cardiovascular risk in pre-menopausal females. Further investigation into sex-differences in HoFH in larger sample sizes is warranted.

Identifiants

DOI: 10.1016/j.jacl.2024.01.003 PMID: 38281851
pubmed: 38281851
pii: S1933-2874(24)00003-5
doi: 10.1016/j.jacl.2024.01.003
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

Copyright © 2024. Published by Elsevier Inc.

Auteurs

Zobaida Al-Baldawi (Z)

Michael G. DeGroote School of Medicine, McMaster University, Hamilton, ON, Canada (Dr Al-Baldawi).

Leslie Brown (L)

Research Institute of the McGill University Health Centre, Montreal, QC, Canada (Drs Brown, Ruel, Baass, Sherman, Genest).

Isabelle Ruel (I)

Research Institute of the McGill University Health Centre, Montreal, QC, Canada (Drs Brown, Ruel, Baass, Sherman, Genest).

Alexis Baass (A)

Research Institute of the McGill University Health Centre, Montreal, QC, Canada (Drs Brown, Ruel, Baass, Sherman, Genest).

Jean Bergeron (J)

Endocrinology and Nephrology Unit, CHU de Québec - Université Laval Research Center, Québec City, QC, Canada (Drs Bergeron, Couture).

Lubomira Cermakova (L)

Centre for Heart Lung Innovation, Providence Health Care Research, Institute, Department of Medicine, University of British Columbia, Vancouver, BC, Canada (Drs Cermakova, Francis, Iatan, Brunham).

Patrick Couture (P)

Endocrinology and Nephrology Unit, CHU de Québec - Université Laval Research Center, Québec City, QC, Canada (Drs Bergeron, Couture).

Daniel Gaudet (D)

ECOGENE-21 Clinical and Translational Research Center, Chicoutimi, QC, Canada (Dr Gaudet).

Gordon A Francis (GA)

Centre for Heart Lung Innovation, Providence Health Care Research, Institute, Department of Medicine, University of British Columbia, Vancouver, BC, Canada (Drs Cermakova, Francis, Iatan, Brunham).

Robert A Hegele (RA)

Departments of Medicine and Biochemistry, Schulich School of, Medicine and Robarts Research Institute, Western University, London, ON, Canada (Dr Hegele).

Iulia Iatan (I)

Centre for Heart Lung Innovation, Providence Health Care Research, Institute, Department of Medicine, University of British Columbia, Vancouver, BC, Canada (Drs Cermakova, Francis, Iatan, Brunham).

G B John Mancini (GBJ)

Centre for, Cardiovascular Innovation, University of British Columbia, Vancouver, BC, Canada (Dr Mancini).

Brian W McCrindle (BW)

Department of Pediatrics, The Labatt Family Heart Centre, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada (Dr McCrindle).

Thomas Ransom (T)

Queen Elizabeth II Health Sciences Centre, Dalhousie University, Halifax, NS, Canada (Dr Ransom).

Mark H Sherman (MH)

Research Institute of the McGill University Health Centre, Montreal, QC, Canada (Drs Brown, Ruel, Baass, Sherman, Genest); Department of Endocrinology, McGill University, Health Centre, Montreal, QC, Canada (Dr Sherman).

Ruth McPherson (R)

Lipid Clinic & Atherogenomics Laboratory, University, of Ottawa Heart Institute, Ottawa, ON, Canada (Dr McPherson).

Jacques Genest (J)

Research Institute of the McGill University Health Centre, Montreal, QC, Canada (Drs Brown, Ruel, Baass, Sherman, Genest).

Liam R Brunham (LR)

Centre for Heart Lung Innovation, Providence Health Care Research, Institute, Department of Medicine, University of British Columbia, Vancouver, BC, Canada (Drs Cermakova, Francis, Iatan, Brunham).

Classifications MeSH