Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group
Open accessAbstract
OBJECTIVES: (a) To determine the excess mortality from all causes and from coronary heart disease in patients with familial hypercholesterolaemia; (b) to examine how useful various criteria for selective measurement of cholesterol concentration in cardiovascular screening programmes are in identifying these patients. DESIGN: Prospective cohort study. SETTING: Eleven hospital outpatient lipid clinics in the United Kingdom. PATIENTS: 282 men and 244 women aged 20-74 with heterozygous familial hypercholesterolaemia. MAIN OUTCOME MEASURE: Standardised mortality ratio, all adults in England and Wales being taken as standard (standardised mortality ratio = 100 for standard population). RESULTS: The cohort was followed up for 2234 person years during 1980-9. Fifteen of the 24 deaths were due to coronary heart disease, giving a standardised mortality ratio of 386 (95% confidence interval 210 to 639). The excess mortality from this cause was highest at age 20-39 (standardised mortality ratio 9686; 3670 to 21,800) and decreased significantly with age. The standardised mortality ratio for all causes was 183 (117 to 273) and also was highest at age 20-39 (standardised mortality ratio 902; 329 to 1950). There was no significant difference between men and women. Criteria for measurement of cholesterol concentration in cardiovascular screening programmes (family history, presence of myocardial infarction, angina, stroke, corneal arcus, xanthelasma, obesity, hypertension, diabetes, or any of these) were present in 78% of patients. CONCLUSIONS: Familial hypercholesterolaemia is associated with a substantial excess mortality from coronary heart disease in young adults but may not be associated with a substantial excess mortality in older patients. Criteria for selective measurement of cholesterol concentration in cardiovascular screening programmes identify about three quarters of patients with the clinically overt condition.
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Evinacumab decreases triglycerides, LDL cholesterol, and Lp(a) in patients with homozygous familial hypercholesterolaemia.
“Evinacumab has been shown to decrease TGs, LDL-C, and Lp(a) levels in HoFH patients [344].”
From 2019 ESC/EAS guidelines for the management of dyslipidaemias: lipid modification to reduce cardiovascular risk (2019) · cites this paper as [344]
The Dutch Lipid Clinic Network criteria are commonly used for FH diagnosis, and other criteria include the Simon Broome register and WHO criteria.
“The commonly used criteria from the Dutch Lipid Clinic Network (DLCN) are shown in Table 21 . Other criteria are the Simon Broome register or the WHO criteria. 299,300”
From 2016 ESC/EAS Guidelines for the Management of Dyslipidaemias (2016) · cites this paper as [299]
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“Patients and study design The methods have been described previously.(7) Recruitment to the Simon Broome Register of patients with heterozygous familial hypercholesterolamia began since 1980s.”
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- Venue
- BMJ
- Publisher
- BMJ
- Published
- 1991-10-12
- Volume
- 303
- Issue
- 6807
- Pages
- 893-896
- ISSN
- 0007-1447 (ISSN-L)
- 0959-8138
- 1468-5833
- OpenAlex
- W4249898731
- Cited by
- 815
- References
- 20
- Citations by year
- 2026: 24 · 2025: 45 · 2024: 39 · 2023: 42 · 2022: 47 · 2021: 36 · 2020: 39 · 2019: 41 · 2018: 45 · 2017: 55 · 2016: 55 · 2015: 36 · 2014: 27 · 2013: 28 · 2012: 30
- FWCI
- 5.55
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- BMJ (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Bristol-Myers Squibb
- Topics
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Health Promotion and Cardiovascular Prevention
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Diabetes, Cardiovascular Risks, and Lipoproteins
- Keywords
- familial hypercholesterolemia, coronary artery disease, excess mortality, standardized mortality ratio, cardiovascular screening, cholesterol determination, young adults, risk factors
- MeSH terms
- Adult, Age Factors, Aged, Coronary Disease, Female, United Kingdom, Humans, Hyperlipoproteinemia Type II, Male, Mass Screening, Middle Aged, Prospective Studies, Risk Factors
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