EPIRUS FH Reverse Cascade Screening

Study Overview
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Brief Summary
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Familial hypercholesterolemia (FH) is the most common inherited metabolic disorder resulting in marked elevations in low-density lipoprotein cholesterol (LDL-C). If left untreated, lifelong exposure to elevated LDL-C leads to a substantially increased risk of premature cardiovascular disease as compared to the general population. Although FH adverse cardiovascular outcomes are potentially preventable through early identification of FH individuals and initiation of effective treatment, available evidence shows that FH is under-diagnosed and under-treated. Childhood is the optimal period for FH screening, because due to minimal dietary and hormonal influences, LDL-C levels reflect predominantly the genetic component in children and are well suited to discriminate FH from other causes of elevated LDL-C. If FH remains untreated in this latent stage of the disease, individuals show a 10-fold increase of cardiovascular risk during early and middle adulthood. In this context, an effective approach for detecting FH would be a screening during childhood or in young adolescents in combination with reverse cascade screening of first-degree relatives of FH individuals. EPIRUS-FH registry is a model program of reverse cascade screening for FH in children and adolescents in Northwest Greece that aims to increase public and physician awareness, strengthen the national registry of familial hypercholesterolemia (HELLAS-FH) and constitute the core for a national FH registry in children and adolescents in Greece.

Official Title
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Reverse Cascade Screening for Familial Hypercholesterolemia in Children and Adolescents in Northwest Greece

Conditions
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Familial Hypercholesterolemia

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: LDL-C >160 mg/dL on two seperate measurements 3 months apart LDL-C >130 mg/dL + family history of premature coronary artery disease or hypercholesterolemia in one parent Children and adolescents on cholesterol-lowering medication Exclusion Criteria: Refusal to sign the consent form and disagreement with the terms of participation. Any clinically significant disorder recognized at the time of the preliminary assessment, which in the judgment of the investigator would disqualify patient's participation in the study.

Ages Eligible for Study
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Minimum Age: 4 Years
Maximum Age: 16 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Heterozygous Familial Hypercholesterolemia<br>Children and adolescents with Heterozygous Familial Hypercholesterolemia. | |
| Homozygous Familial Hypercholesterolemia<br>Children and adolescents with Homozygous Familial Hypercholesterolemia. | |
| Unaffected (non-FH) individuals<br>Children and adolescents not carrying the investigated FH mutations | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Diagnosis of Familial Hypercholesterolemia | Type of FH (Heterozygous FH, Homozygous FH). In the case of genetic diagnosis, what gene was affected (LDL receptor, Apolipoprotein B, PCSK9, LDLRAP1, other to be specified). Age at diagnosis of FH. | Baseline | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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children, adolescents, reverse cascade screening