Paeds Cases · endocrinology-diabetes-and-growth
Lipid disorders and familial hypercholesterolaemia — structured clinical encounter
Structured encounter testing the approach to a well 9-year-old boy found to have an LDL-C of 6.2 mmol per litre and a father with a myocardial infarction at 48: the diagnostic thresholds, the secondary-cause work-up, the statin-first plan, and the cascade-screening conversation with the family.
On this page
Study tools
Target exams
Station brief (candidate)
You are the paediatric registrar. A well 9-year-old boy is referred after a school-entry lipid panel shows an LDL-C of 6.2 mmol per litre with a normal triglyceride and HDL. His father had a myocardial infarction at 48. The team asks you to make the diagnosis, arrange the investigations, build the management plan, and speak with the family. You have 12 minutes with the team and 5 minutes for examiner discussion. [5]
References5ShowHide
- [1]Wiegman A; Gidding SS; Watts GF; et al Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment. Eur Heart J, 2015.PMID 26009596
- [2]Nordestgaard BG; Chapman MJ; Humphries SE; et al Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease. Eur Heart J, 2013.PMID 23956253
- [4]Rodenburg J; Vissers MN; Wiegman A; et al Statin treatment in children with familial hypercholesterolemia: the younger, the better. Circulation, 2007.PMID 17664376
- [5]Daniels SR; Greer FR; Committee on Nutrition Lipid screening and cardiovascular health in childhood. Pediatrics, 2008.PMID 18596007
- [6]Luirink IK; Wiegman A; Kusters DM; et al 20-Year Follow-up of Statins in Children with Familial Hypercholesterolemia. N Engl J Med, 2019.PMID 31618540