Sex differences in the presentation, treatment and outcomes of patients with homozygous familial hypercholesterolemia
Copyright © 2024. Published by Elsevier Inc..
BACKGROUND: Homozygous familial hypercholesterolemia (HoFH) is a rare, autosomal semi-dominant lipid metabolism disorder characterized by extremely high low-density lipoprotein cholesterol (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: 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: This study included 48 patients (27 (56%) female). The median age at diagnosis in females was 14.0 (interquartile range (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 mmol/L (10.0-18.3) in females and 15.3 (10.5-20.0) in males (p = 0.51). Follow up LDL-C levels were 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: 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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:18 |
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| Enthalten in: |
Journal of clinical lipidology - 18(2024), 2 vom: 27. März, Seite e189-e196 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Al-Baldawi, Zobaida [VerfasserIn] |
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| Links: |
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| Themen: |
Cardiovascular outcomes |
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| Anmerkungen: |
Date Completed 03.05.2024 Date Revised 03.05.2024 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1016/j.jacl.2024.01.003 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| 245 | 1 | 0 | |a Sex differences in the presentation, treatment and outcomes of patients with homozygous familial hypercholesterolemia |
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| 500 | |a Date Revised 03.05.2024 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Copyright © 2024. Published by Elsevier Inc. | ||
| 520 | |a BACKGROUND: Homozygous familial hypercholesterolemia (HoFH) is a rare, autosomal semi-dominant lipid metabolism disorder characterized by extremely high low-density lipoprotein cholesterol (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 | ||
| 520 | |a 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 | ||
| 520 | |a RESULTS: This study included 48 patients (27 (56%) female). The median age at diagnosis in females was 14.0 (interquartile range (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 mmol/L (10.0-18.3) in females and 15.3 (10.5-20.0) in males (p = 0.51). Follow up LDL-C levels were 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) | ||
| 520 | |a CONCLUSION: 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 | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 4 | |a Cardiovascular outcomes | |
| 650 | 4 | |a Homozygous familial hypercholesterolemia | |
| 650 | 4 | |a Lipid lowering therapies | |
| 650 | 4 | |a Registry-based studies | |
| 650 | 4 | |a Sex differences | |
| 650 | 7 | |a Cholesterol, LDL |2 NLM | |
| 700 | 1 | |a Brown, Leslie |e verfasserin |4 aut | |
| 700 | 1 | |a Ruel, Isabelle |e verfasserin |4 aut | |
| 700 | 1 | |a Baass, Alexis |e verfasserin |4 aut | |
| 700 | 1 | |a Bergeron, Jean |e verfasserin |4 aut | |
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| 700 | 1 | |a Hegele, Robert A |e verfasserin |4 aut | |
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| 700 | 1 | |a McPherson, Ruth |e verfasserin |4 aut | |
| 700 | 1 | |a Genest, Jacques |e verfasserin |4 aut | |
| 700 | 1 | |a Brunham, Liam R |e verfasserin |4 aut | |
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