ArticleFrontiers in endocrinology2026
Longitudinal management and novel pharmacological interactions in a patient with HeFH, 21-OHD, and kawasaki disease: a 6-year clinical follow-up.
Article in Frontiers in endocrinology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Familial hypercholesterolemia (FH) and 21-hydroxylase deficiency (21-OHD) are both genetic disorders that significantly elevate cardiovascular risk in pediatric patients. Kawasaki disease (KD) further exacerbates this risk by causing coronary artery complications. This study reports a rare case of a child concurrently diagnosed with heterozygous FH (HeFH), 21-OHD, and KD-induced aortic aneurysm, highlighting a novel pharmacological interaction observed during treatment. Case presentation: A 15-day-old boy was initially diagnosed with 21-OHD following newborn screening. At age 1.1 years, he developed KD with coronary artery aneurysms. At 1.3 years, he presented with cutaneous xanthomas and severe hypercholesterolemia (LDL-C 13.0 mmol/L), leading to a diagnosis of HeFH (LDLR variant c.G2389A). Due to his exceptionally high cardiovascular risk, atorvastatin (5-10 mg/day) was initiated at age 2.6 years, followed by ezetimibe (5 mg/day) at age 3.7 years. Results: The combination therapy successfully reduced LDL-C levels to target goals without adverse effects on liver or muscle enzymes. As LDL-C levels decreased following statin therapy, the hydrocortisone dose required to manage 21-OHD increased from 7 mg/m²/day to 11.2 mg/m²/day. Conclusions: Early aggressive lipid-lowering therapy, including statins and ezetimibe, is safe and effective for high-risk FH infants under age 3. The observed negative correlation between LDL-C and hydrocortisone dosage suggests that statin-induced inhibition of cholesterol synthesis may interfere with adrenal steroidogenesis, requiring careful dose adjustment in patients with comorbid 21-OHD.
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