Evaluation of a Digiphysical Screening Method to Identify and Diagnose Familial Hypercholesterolemia

Study Overview
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Brief Summary
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Longitudinal and observational registry-based cohort study of individuals participating in the national digiphysical screening program for Familial Hypercholesterolemia. The information collected in the screening process will be combined in pseudo-anonymous form with data from the National Board of Health and Welfare (registries: Cause of Death, Diagnoses according to International Classification of Diseases (ICD) and Prescribed drugs) and Statistic Sweden (Longitudinal integrated database for health insurance and labour market studies). Primary analysis: association between Familial Hypercholesterolemia and cardiovascular disease. Secondary analysis: efficacy and health economic aspects of digiphysical screening for Familial Hypercholesterolemia.

Official Title
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Evaluation of Digiphysical Screening for Familial Hypercholesterolemia - Efficacy of Digiphysical Screening, Effects on Cardiovascular Morbidity and Mortality and Health Economic Aspects

Conditions
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Familial Hypercholesterolemia, Hypercholesterolemia

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Swedish personal identification number Exclusion Criteria: Decline informed consent
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Individuals screened for Familial Hypercholesterolemia<br>Individuals participating in diagnostic activities in the digiphysical health care screening program for Familial Hypercholesterolemia and have provided informed consent are included in the cohort. | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Cardiovascular disease burden in patients with newly diagnosed Familial Hypercholesterolemia | Presence of ischemic heart disease, ischemic cerebrovascular disease and/or peripheral artery disease in relation to age in patients with newly diagnosed Familial Hypercholesterolemia. Data is reported after 2, 5, 10, 15 and 20 years. | Through study completion, until 2041. | 
| Change in cardiovascular disease burden in patients with diagnosed Familial Hypercholesterolemia | Change in presence of ischemic heart disease, ischemic cerebrovascular disease and/or peripheral artery disease in relation to age in patients diagnosed Familial Hypercholesterolemia. Comparison is done between baseline and after 2, 5, 10, 15 and 20 years. | Through study completion, until 2041. | 
| Impact of mutation positive Familial Hypercholesterolemia on cardiovascular disease burden | Comparison of cardiovascular disease burden (presence of ischemic heart disease, ischemic cerebrovascular disease and/or peripheral artery disease) in relation to age in patients with mutation positive versus negative Familial Hypercholesterolemia. Data is reported after 2, 5, 10, 15 and 20 years. | Through study completion, until 2041. | 
| Comparison of cardiovascular disease burden between patients with diagnosed Familial Hypercholesterolemia and individuals aquitted from the diagnose | Comparison of cardiovascular disease burden (presence of ischemic heart disease, ischemic cerebrovascular disease and/or peripheral artery disease) in relation to age between patients diagnosed with Familial Hypercholesterolemia and individuals screened but acquitted of the diagnose. Data is reported after 2, 5, 10, 15 and 20 years. | Through study completion, until 2041. | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Key efficacy numbers and ratios of screened and diagnosed for the digiphysical screening method to diagnose Familial Hypercholesterolemia | The efficacy of the digiphysical screening method will be assessed by key numbers and ratios: screened biochemically tested with cholesterol measurement genetically tested diagnosed with Familial Hypercholesterolemia biochemically tested/screened genetically tested/screened diagnosed with Familial Hypercholesterolemia/screened Data is reported after 2, 5, 10, 15 and 20 years. | Through study completion, until 2041. | 
| Health economic aspects of the digiphysical screening method to diagnose Familial Hypercholesterolemia | Costs and cost-benefits for digiphysical screening and treatment of individuals diagnosed with Familial Hypercholesterolemia. Data is reported after 2, 5, 10, 15 and 20 years. | Through study completion, until 2041. | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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familial hypercholesterolemia, cardiovascular disease, coronary artery disease, ischemic stroke, peripheral artery disease, hypercholesterolemia