By switaschek, 31 August, 2020

Title

(BMJ)—A 6-yo boy presented w/ painful masses on both elbows and his R knee. The masses had enlarged in the past 5y. His mother and sibling had similar masses. Exam: nonfixed, nontender nodules. Bx: lipid-laden histiocytes. Labs: elevated total cholesterol and LDL, triglycerides WNL. What’s the underlying dx?
Dysbetalipoproteinemia
Diabetes mellitus
Juvenile xanthogranuloma
Lipoprotein lipase deficiency
Familial hypercholesterolemia
You are correct. On the basis of clinical, histopathological, and biochemical findings, a dx of familial hypercholesterolemia was made. Apart from genetic disorders of lipid metabolism, other causes of pediatric xanthomas include cholestatic liver disorders, diabetes, hypothyroidism, and nephrotic syndrome. Xanthomas warrant lipid profile testing, as early dx and tx of associated hypercholesterolemia can alleviate early-onset CV complications, w/ a significant increase in life expectancy.

Archives of Disease in Childhood 2020;105:730