Current causes of death in familial hypercholesterolemia
Abstract Background Familial hypercholesterolemia (FH) is a codominant autosomal disease characterized by high low-density lipoprotein cholesterol (LDLc) and a high risk of premature cardiovascular disease (CVD). The molecular bases have been well defined, and effective lipid lowering is possible. T...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2022-08-01
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| Series: | Lipids in Health and Disease |
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| Online Access: | https://doi.org/10.1186/s12944-022-01671-5 |
| _version_ | 1817968094964875264 |
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| author | Victoria Marco-Benedí Ana M. Bea Ana Cenarro Estíbaliz Jarauta Martín Laclaustra Fernando Civeira |
| author_facet | Victoria Marco-Benedí Ana M. Bea Ana Cenarro Estíbaliz Jarauta Martín Laclaustra Fernando Civeira |
| author_sort | Victoria Marco-Benedí |
| collection | DOAJ |
| description | Abstract Background Familial hypercholesterolemia (FH) is a codominant autosomal disease characterized by high low-density lipoprotein cholesterol (LDLc) and a high risk of premature cardiovascular disease (CVD). The molecular bases have been well defined, and effective lipid lowering is possible. This analysis aimed to study the current major causes of death of genetically defined heterozygous familial hypercholesterolemia (heFH). Methods A case‒control study was designed to analyse life-long mortality in a group of heFH and control families. Data from first-degree family members of cases and controls (nonconsanguineous cohabitants), including deceased relatives, were collected from a questionnaire and review of medical records. Mortality was compared among heFH patients, nonheFH patients, and nonconsanguineous family members. Results A total of 813 family members were analysed, 26.4% of whom were deceased. Among the deceased, the mean age of death was 69.3 years in heFH individuals, 73.5 years in nonheFH individuals, and 73.2 years in nonconsanguineous individuals, without significant differences. CVD was the cause of death in 59.7% of heFH individuals, 37.7% of nonheFH individuals, and 37.4% of nonconsanguineous individuals (P = 0.012). These differences were greater after restricting the analyses to parents. The hazard ratio of dying from CVD was 2.85 times higher (95% CI, (1.73–4.69) in heFH individuals than in individuals in the other two groups (non-FH and nonconsanguineous), who did not differ in their risk. Conclusions CVD mortality in heFH individuals is lower and occurs later than that described in the last century but is still higher than that in non-FH individuals. This improved prognosis of CVD risk is not associated with changes in non-CVD mortality. |
| first_indexed | 2024-04-13T20:03:27Z |
| format | Article |
| id | doaj.art-d895cb040eaa42aa834a09f4b5eb070e |
| institution | Directory Open Access Journal |
| issn | 1476-511X |
| language | English |
| last_indexed | 2024-04-13T20:03:27Z |
| publishDate | 2022-08-01 |
| publisher | BMC |
| record_format | Article |
| series | Lipids in Health and Disease |
| spelling | doaj.art-d895cb040eaa42aa834a09f4b5eb070e2022-12-22T02:32:07ZengBMCLipids in Health and Disease1476-511X2022-08-012111910.1186/s12944-022-01671-5Current causes of death in familial hypercholesterolemiaVictoria Marco-Benedí0Ana M. Bea1Ana Cenarro2Estíbaliz Jarauta3Martín Laclaustra4Fernando Civeira5Hospital Universitario Miguel Servet, IIS Aragón, CIBERCVHospital Universitario Miguel Servet, IIS Aragón, CIBERCVUnidad de Lípidos, Hospital Universitario Miguel ServetHospital Universitario Miguel Servet, IIS Aragón, CIBERCVHospital Universitario Miguel Servet, IIS Aragón, CIBERCVHospital Universitario Miguel Servet, IIS Aragón, CIBERCVAbstract Background Familial hypercholesterolemia (FH) is a codominant autosomal disease characterized by high low-density lipoprotein cholesterol (LDLc) and a high risk of premature cardiovascular disease (CVD). The molecular bases have been well defined, and effective lipid lowering is possible. This analysis aimed to study the current major causes of death of genetically defined heterozygous familial hypercholesterolemia (heFH). Methods A case‒control study was designed to analyse life-long mortality in a group of heFH and control families. Data from first-degree family members of cases and controls (nonconsanguineous cohabitants), including deceased relatives, were collected from a questionnaire and review of medical records. Mortality was compared among heFH patients, nonheFH patients, and nonconsanguineous family members. Results A total of 813 family members were analysed, 26.4% of whom were deceased. Among the deceased, the mean age of death was 69.3 years in heFH individuals, 73.5 years in nonheFH individuals, and 73.2 years in nonconsanguineous individuals, without significant differences. CVD was the cause of death in 59.7% of heFH individuals, 37.7% of nonheFH individuals, and 37.4% of nonconsanguineous individuals (P = 0.012). These differences were greater after restricting the analyses to parents. The hazard ratio of dying from CVD was 2.85 times higher (95% CI, (1.73–4.69) in heFH individuals than in individuals in the other two groups (non-FH and nonconsanguineous), who did not differ in their risk. Conclusions CVD mortality in heFH individuals is lower and occurs later than that described in the last century but is still higher than that in non-FH individuals. This improved prognosis of CVD risk is not associated with changes in non-CVD mortality.https://doi.org/10.1186/s12944-022-01671-5Heterozygous familial hypercholesterolemia phenotypeParental-offspringCardiovascular disease death |
| spellingShingle | Victoria Marco-Benedí Ana M. Bea Ana Cenarro Estíbaliz Jarauta Martín Laclaustra Fernando Civeira Current causes of death in familial hypercholesterolemia Lipids in Health and Disease Heterozygous familial hypercholesterolemia phenotype Parental-offspring Cardiovascular disease death |
| title | Current causes of death in familial hypercholesterolemia |
| title_full | Current causes of death in familial hypercholesterolemia |
| title_fullStr | Current causes of death in familial hypercholesterolemia |
| title_full_unstemmed | Current causes of death in familial hypercholesterolemia |
| title_short | Current causes of death in familial hypercholesterolemia |
| title_sort | current causes of death in familial hypercholesterolemia |
| topic | Heterozygous familial hypercholesterolemia phenotype Parental-offspring Cardiovascular disease death |
| url | https://doi.org/10.1186/s12944-022-01671-5 |
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