Cardiovascular Diseases, Dyslipidemias, Hereditary Diseases
Conditions
Keywords
Lipoprotein(a), Coronary artery disease, Cascade screening, Atherosclerotic cardiovascular disease
Brief summary
The aim of the current project is to evaluate the penetrance of elevated plasma Lp(a) levels in patients with atherosclerotic coronary artery disease to their first- and second-degree biological relatives based on data from a clinical health care development project.
Detailed description
An elevated plasma level of lipoprotein(a) \[Lp(a)\] is an independent and causative risk factor for atherosclerotic cardiovascular disease. The Lp(a) plasma level is predominantly genetically determined via a complex hereditary pattern of the LPA gene, and remains relatively constant throughout an individual's entire life cycle. The relationship between plasma Lp(a) and the risk for a cardiovascular event has been shown to be linear. Cascade screening, i.e. screening of biological relatives of the first detected patient (index) with a disease in a family, is an effective approach to identify and diagnose new patients with hereditary diseases. The method has been shown to be cost-effective for the most common genetically caused dyslipidemia, familial hypercholesterolemia, but the knowledge if cascade screening would be an effective method to screen for elevated plasma Lp(a) is not known. The aim of the current project is to evaluate the penetrance of elevated plasma Lp(a) levels in patients with atherosclerotic coronary artery disease to their first- and second-degree biological relatives. The study will be based on results from a clinical health care development project in which patients who have had their plasma Lp(a) measured in the clinical routine will be asked to participate in the project. The participating patients invite their relatives to participate in the cascade screening and to measure their plasma Lp(a) levels. Six Swedish hospitals participate in the project and 750 patients with atherosclerotic coronary artery disease be included and divided into three strata according to their plasma Lp(a) level (low \<70 nmol/L; intermediate 70-169 nmol/L; high \>170 nmol/L). The indexes will in turn invite 1200 first- and second-degree relatives to have their plasma Lp(a) measured. A scientific evaluation of the health care development project will be performed to study the penetrance of elevated plasma Lp(a) levels in indexes to their relatives.
Interventions
OTHERmeasurement of lipoprotein(a)
Plasma lipoprotein(a) will be measured in the biological relatives group as part of a clinical health care development project
Sponsors
Karolinska Institutet
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* participation in the clinical health care development project * established atherosclerotic coronary artery disease
Exclusion criteria
* diagnosis of familial hypercholesterolemia * chronic kidney disease stadium ≥4
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Difference in proportion of elevated plasma lipoprotein(a) between index and first degree relatives | Dataset will be analysed after completion of health care development project (anticipated March 2025) | Difference in proportion of low, intermediate and high plasma lipoprotein(a) levels between first degree relatives stratified on index patients Lp(a) level (i.e low, intermediate, high) |
| Difference in proportion of elevated plasma lipoprotein(a) between index and second degree relatives | Dataset will be analysed after completion of health care development project (anticipated March 2025) | Difference in proportion of low, intermediate and high plasma lipoprotein(a) levels between second degree relatives stratified on index patients Lp(a) level (i.e low, intermediate, high) |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Difference in cardiovascular disease burden between index and relatives | Dataset will be analysed after completion of health care development project (anticipated March 2025) | Difference in prevalence of cardiovascular disease manifestations (coronary artery disease, ischemic stroke, peripheral artery disease) between index and relatives in each of the Lp(a) strata of the index (low, intermediate and high). Data on index will be recorded by a health care professional and data on relatives will be self-reported. |
| Difference in cardiovascular risk factors between index and relatives | Dataset will be analysed after completion of health care development project (anticipated March 2025) | Difference in prevalence of cardiovascular risk factors (hypertension, diabetes, smoking status) between index and relatives in each of the Lp(a) strata of the index (low, intermediate and high). Data on index will be recorded by a health care professional and data on relatives will be self-reported. |
Countries
Sweden
Outcome results
None listed