Early Detection of Familial Hypercholesterolemia in Children

Launched by INSTITUT INVESTIGACIO SANITARIA PERE VIRGILI · Apr 29, 2020

Keywords

ClinConnect Summary

This clinical trial is focused on finding out how to detect a genetic condition called Familial Hypercholesterolemia (FH) in children at an early age. FH leads to high cholesterol levels, which can increase the risk of heart disease later in life. By identifying children with this condition early, doctors can help them make healthy lifestyle changes and, if needed, start medication to lower their cholesterol. This trial is also important for finding other family members who may be affected.

To be eligible for this study, children aged between 2 and 18 who have cholesterol levels above 135 mg/dL can participate, but only if their doctor has ruled out other reasons for high cholesterol. Additionally, at least one parent must have a genetic mutation or a diagnosis related to high cholesterol. Participants can expect to undergo tests and evaluations to confirm whether they have FH, which will help researchers understand how this condition is passed down in families. This trial is currently recruiting participants of all genders, and it aims to improve health outcomes for children with FH.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Children between 2 and 18 years of age.
• • LDL-C level above 135 mg/dL
• • Previously, the pediatrician will have discarded secondary causes (hypercholesterolaemia such as hypothyroidism, nephrotic syndrome, diabetes, renal insufficiency).
• • After confirmation that one of the parents has a genetic mutation (Lipoxip/Liponext) or clinical diagnosis (DLCN ≥ 8), the child will be studied. The progenitor with hypercholesterolemia will be considered as an index case, in this way we will demonstrate the vertical transmission of the genetic disease.
• Exclusion Criteria:
• • The child population under 2 and over the age of 18 and children.
• • Children with high cholesterol but by secondary causes.