Paeds Vivas · endocrinology-diabetes-and-growth
Lipid disorders and familial hypercholesterolaemia — branching viva
Branching viva from the LDL-C threshold, through the asymptomatic school-age child with a family history, the adolescent with xanthomas and homozygous FH, the statin-first drug ladder and its safety evidence, and the cascade-screening and contraception counselling that complete the plan.
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Target exams
RACP General PaediatricsRACP DCEMRCPCH ClinicalRCPSC Pediatrics
Prompt
You are the paediatric registrar in the outpatient lipid clinic. The consultant asks you to talk through three patients: a well 9-year-old boy with an LDL-C of 6.2 mmol per litre and a father who had an infarct at 48, a 14-year-old girl with Achilles xanthomas and an LDL-C of 14, and an adolescent girl on a statin who asks about a future pregnancy. The examiner releases information in stages.
Station opening
Examiner: "Tell me the single concept that frames every child with a raised LDL-C, and why it matters." [1]
Strong candidate (must-hit)
- The concept is the raised LDL-C from birth: a chronic deposit in the arterial wall that drives premature atherosclerosis silently over decades. It matters because the child looks and feels well, so the disease is missed and under-treated, and because the deposit can be prevented — but not easily reversed — by lowering the LDL-C early. That single idea organises the thresholds, the drug ladder and the cascade screen. [1]
Weak candidate
- "A high cholesterol runs in the family." [1]
References6ShowHide
- [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
- [3]Cuchel M; Bruckert E; Ginsberg HN; et al Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. Eur Heart J, 2014.PMID 25053660
- [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