Pediatric Lipid Disorders Flashcards

Which pediatric lipid disorder is characterized by markedly low HDL-C, orange-colored tonsils, and hepatosplenomegaly?

Answer: Tangier disease

Tangier disease (ABCA1 mutation) causes near-absent HDL, cholesterol ester accumulation, and the hallmark orange tonsils from sterol deposition.

A neonate presents with failure to thrive, fat malabsorption, and acanthocytosis on peripheral smear. Which lipid disorder is most likely?

Answer: Abetalipoproteinemia

Abetalipoproteinemia (MTP gene mutation) presents in infancy with fat malabsorption, acanthocytes, and absent ApoB-containing lipoproteins.

Children with abetalipoproteinemia require lifelong supplementation with which fat-soluble vitamins?

Answer: Vitamins A, D, E, and K in high doses

Fat malabsorption in abetalipoproteinemia impairs absorption of all fat-soluble vitamins, requiring high-dose A, D, E, and K supplementation.

Which imaging modality is recommended to assess subclinical atherosclerosis in high-risk children with familial hypercholesterolemia?

Answer: Carotid intima-media thickness (CIMT) by ultrasound

Carotid intima-media thickness measured by ultrasound is a validated, non-invasive surrogate marker for subclinical atherosclerosis in pediatric FH.

A 16-year-old girl with FH who is planning pregnancy asks about her current statin therapy. What is the recommended approach?

Answer: Switch to bile acid sequestrant and discontinue statin

Statins are contraindicated in pregnancy; bile acid sequestrants are the safest option for LDL-C management during pregnancy planning and gestation.

Which dietary fat modification most effectively reduces LDL-C in children with primary hypercholesterolemia?

Answer: Reducing saturated and trans fat intake

Reducing saturated fat to <7% and eliminating trans fats is the most evidence-based dietary intervention for lowering LDL-C in hypercholesterolemic children.

Which pediatric patient population has the highest prevalence of dyslipidemia requiring screening at any age, regardless of universal screening guidelines?

Answer: Children with a first-degree relative with premature ASCVD or known dyslipidemia

Selective screening should be performed at any age in children with a first-degree relative with premature ASCVD or known familial dyslipidemia.