STATINS TREATMENT AND ORO-DENTAL ASPECTS IN A CASE OF HEREDITARY HYPERCHOLESTEROLEMIA IN A CHILD UNDER 6 YEARS

Area of Science:

• Genetics
• Cardiology
• Pediatrics

Background:

• Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder characterized by severely elevated cholesterol levels.
• FH significantly increases the risk of premature atherosclerosis and cardiovascular disease, often leading to early mortality.
• Early diagnosis and intervention are crucial for managing FH and mitigating its severe health consequences.

Observation:

• A 4-year-old preschooler was diagnosed with FH, presenting as a compound heterozygote with specific LDLR gene mutations (C20IX and G571E).
• The patient exhibited extremely high cholesterol levels at diagnosis: 932 mg/dL total cholesterol and 792 mg/dL LDL-cholesterol.
• Oro-dental aspects were also considered in the management of this young FH patient.

Findings:

• The patient received off-label treatment with rosuvastatin and ezetimibe, initiated at age 5.
• These lipid-lowering medications are not typically approved for children under 6 in Europe.
• The treatment decision was based on the patient's severe diagnosis and poor prognosis.

Implications:

• This case demonstrates the feasibility and potential necessity of early, off-label statin use in pediatric FH.
• Effective management of FH in early childhood may alter the long-term cardiovascular disease trajectory.
• Further research into the safety and efficacy of early statin treatment in children with FH is warranted.