A Toddler’s High Cholesterol Journey: Unraveling a Diagnosis Puzzle in the Absence of Family History

In this case, a 5-year-old female with significantly elevated low-density lipoprotein cholesterol (LDL-C) levels was initially misdiagnosed with familial hypercholesterolemia (FH). However, genetic testing ruled out FH, prompting further investigation. The diagnosis shifted to lysosomal acid lipase deficiency (LAL-D), a rare autosomal recessive disorder caused by LIPA gene mutations. Treatment with sebelipase-alfa and ezetimibe resulted in notable improvements in aminotransferase levels and LDL-C reduction. This case emphasizes the importance of considering alternative lipid disorders when patients exhibit atypical responses to standard therapies, highlighting the need for increased awareness of rare conditions like LAL-D to ensure accurate diagnosis and timely intervention.