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Familial hypercholesterolemia in a paediatric patient
Maad Ullah1, Syed Afzaal Ahmad
1Department of Cardiology, Armed Forces Institute of Cardiology and National Institute of Heart Diseases, Rawalpindi, Pakistan. maad107@yahoo.co.uk
Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
|September 27, 2005
Summary
A rare case of homozygous familial hypercholesterolemia caused severe coronary artery disease in a 10-year-old. The child required coronary artery bypass grafting due to early-onset heart disease.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Familial hypercholesterolemia (FH) is a genetic disorder characterized by high cholesterol levels.
- Homozygous FH (HoFH) presents with severe hypercholesterolemia and premature cardiovascular disease.
- Early diagnosis and intervention are crucial for managing HoFH.
Observation:
- A 10-year-old child with HoFH presented with xanthomatous eruptions.
- The patient exhibited overt angina, indicating significant coronary artery disease.
- This case highlights the extreme early manifestation of cardiovascular complications in HoFH.
Findings:
- The child's HoFH led to severe coronary artery disease by age 10.
- Coronary artery bypass grafting was performed to address the diseased vessels.
- This case underscores the aggressive nature of untreated HoFH in pediatric patients.
Implications:
- Early screening for FH in children with a family history is essential.
- Aggressive lipid-lowering therapies and early surgical interventions may be necessary for HoFH.
- This case emphasizes the need for comprehensive cardiovascular risk management in pediatric hyperlipidemia.