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Updated: May 27, 2026

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
[Management of hypercholesterolemia in children: needs and concerns]
Vincenzo Capuano1, Adriana Rocco, Norman Lamaida
1U.O. di Cardiologia-UTIC, Ospedale Amico G. Fucito, Mercato San Severino (SA), Azienda Ospedaliera ed Universitaria Integrata di Salerno. capuanov@tiscali.it
Insights
Identifying genetic high cholesterol in children is key. Early intervention, including medication for severe cases, can prevent adult cardiovascular disease.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Cardiovascular Health
Context:
- Childhood cholesterol levels are strongly influenced by genetic factors.
- Familial hypercholesterolemia presents in monogenic and multigenic forms, requiring distinct management strategies.
- Early identification of genetic hypercholesterolemia is crucial for long-term cardiovascular health.
Purpose:
- To differentiate between monogenic and multigenic forms of familial hypercholesterolemia in children.
- To outline appropriate intervention strategies based on cholesterol levels and genetic type.
- To discuss the timing and necessity of pharmacological interventions in pediatric hypercholesterolemia.
Summary:
- Monogenic familial hypercholesterolemia often necessitates pharmacological therapy or, in severe homozygous cases, plasmapheresis and liver transplantation.
- Multigenic forms and secondary hypercholesterolemia respond well to lifestyle changes and medication.
- Pharmacological treatment, particularly statins, may be considered for children over 8-10 years or those with LDL cholesterol >500 mg/dl, balancing efficacy with potential side effects.
Impact:
- Prompt, cautious intervention in children with high cholesterol can mitigate the development of adult cardiovascular disease.
- A dual approach involving population-wide lifestyle advice and individualized treatment plans is recommended.
- Statins show promise as effective and safe agents for managing severe pediatric hypercholesterolemia.
Abstract:
In childhood, cholesterol values are closely related to the genetic heritage of the young patient. Among familial hypercholesterolemia, it is essential to identify the monogenic and multigenic forms. In monogenic forms, heterozygotes respond poorly or partially to changes in diet and lifestyle, making pharmacological therapy necessary; in homozygote patients plasmapheresis is required, and liver transplantation is the only intervention that can impact permanently on the development of cardiovascular lesions in adulthood. Conversely, multigenic forms or familial hypercholesterolemia secondary to other diseases respond to changes in diet and lifestyle as well as to pharmacological treatment. It remains unclear how early pharmacological intervention should be implemented. In particular, the presence in children of typical histological lesions of athero- sclerosis and their interaction with cardiovascular disease in adulthood justify a prompt, although cautious, intervention. In fact, cholesterol is necessary for normal development of the organism, provided that percentile values are in the normal range according to age and sex. Two methods of intervention are identified: a population strategy that should be implemented on a large scale for advice about diet and optimal level of physical activity; and an individual strategy, in which diet advice should be followed by pharmacological treatment. Pharmacological therapy may be administered even in children over the age of 8-10 years, if necessary. In younger patients, therapeutic interventions should be restricted to children with LDL cholesterol levels >500 mg/dl. Although statins have only been studied in populations affected by severe familial hypercholesterolemia in the short term, they seem to be the most effective agents in children owing to their efficacy and limited side effects.
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