Pediatric Lipid Disorders Flashcards

Which physical finding is pathognomonic for homozygous familial hypercholesterolemia in children?

Answer: Planar xanthomas in the interdigital web spaces

Planar or tuberous xanthomas over the hands, elbows, knees, and interdigital spaces are hallmark findings in homozygous FH.

Which medication class is used as an adjunct to statins in children with familial hypercholesterolemia who need additional LDL-C lowering?

Answer: Bile acid sequestrants

Bile acid sequestrants (e.g., colesevelam) are approved for pediatric use and provide additive LDL-C lowering with statins.

A 14-year-old male with heterozygous FH initiates statin therapy. What baseline laboratory test is most important to obtain?

Answer: Creatine kinase and hepatic transaminases

Baseline CK and liver function tests (AST/ALT) should be obtained prior to statin initiation to monitor for myopathy and hepatotoxicity.

Which apolipoproteins are elevated in children with familial combined hyperlipidemia?

Answer: ApoB and ApoC-III

Familial combined hyperlipidemia is characterized by overproduction of ApoB-containing particles, with elevated ApoB and often ApoC-III.

Which genetic disorder causing elevated LDL-C in children is transmitted in an autosomal recessive pattern?

Answer: Sitosterolemia

Sitosterolemia (phytosterolemia) is an autosomal recessive disorder caused by ABCG5/ABCG8 mutations leading to plant sterol accumulation.

A child with sitosterolemia should be treated primarily with which medication?

Answer: Ezetimibe

Ezetimibe inhibits NPC1L1-mediated sterol absorption in the gut, making it the drug of choice for sitosterolemia.

What is the significance of measuring Lp(a) in children with familial hypercholesterolemia?

Answer: It identifies those at higher cardiovascular risk requiring more aggressive therapy

Elevated Lp(a) in children with FH confers additional atherosclerotic cardiovascular risk beyond LDL-C and should guide therapy intensity.