Early Detection of Familial Hypercholesterolemia in Children
Early Detection of Familial Hypercholesterolemia in Children in Tarragona Province
Institut Investigacio Sanitaria Pere Virgili
400 participants
Mar 14, 2013
OBSERVATIONAL
Conditions
Summary
Heterozigous FH is an underdiagnosed disease in the paediatric population. Its early detection, would allow us to initiate lifestyle therapeutical changes and early pharmacological therapy if necessary. This is a key fact to reduce atherosclerosis progression and cardiovascular risk in adulthood. Moreover, it will allow, detecting the first and second degree affected relatives.
Eligibility
Inclusion Criteria4
- 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 Criteria2
- The child population under 2 and over the age of 18 and children.
- Children with high cholesterol but by secondary causes.
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Interventions
A semi-quantitative assessment of the consumption of different food groups will be carried out using a frequency questionnaire validated by the Spanish population27. This questionnaire consists of 137 food items and will be obtained by the dietitian of our Unit (see annex). The child population and/or their parents will be instructed on how to fill the data in the food diary for a period of 3 days, in order to be able to analyse the nutritional composition of the intake and the effect on the lipid profile. The first food register, will be obtained at the collection visit before starting any type of treatment. Another food diary will be included after one year. Physical activity will be collected from the Minnesota Test and we will ask about the consumption of tobacco.
Locations(2)
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NCT04370899