Key result
Standard rosuvastatin-ezetimibe yields limited LDL-C lowering in pediatric HoFH, requiring high-dose escalation.
Why the study?
Homozygous familial hypercholesterolemia is a rare, severe genetic disorder where early recognition is crucial because timely diagnosis and aggressive lipid-lowering therapy can significantly alter outcomes.
Case Report (n=1)
No
This case report of a 9-year-old child with homozygous familial hypercholesterolemia demonstrates that standard-dose statin and ezetimibe therapy produces limited LDL-C reduction in severe phenotypes (baseline LDL-C up to 624 mg/dl), highlighting the need for early diagnosis, aggressive dose escalation, and family screening.
May warrant dose escalation in refractory pediatric HoFH; leaves open optimal regimens for this rare population.
Background: Homozygous familial hypercholesterolemia (HoFH) is a rare, severe genetic disorder characterized by markedly elevated low-density lipoprotein (LDL) cholesterol and premature atherosclerotic cardiovascular disease. Early recognition is crucial, as timely diagnosis and aggressive lipid-lowering therapy can significantly alter outcomes. Case summary: A 9-year-old child born of consanguineous marriage presented with multiple skin lesions from 1 year of age. Initially, it involved the calf regions as linear, slightly raised lesions; over time, lesions gradually increased in size and number and spread to the ankles, knees, and elbows, with some coalescing into larger nodular swellings. He had been taking lipid-lowering medication for the last 5 years after consulting several physicians. Notable medical history included consanguineous marriage of his parents, no premature cardiovascular events among first-degree relatives, and presence of bilateral corneal arcus in his aunt. Examination revealed multiple tuberous xanthomas over the elbows and knees; tendinous xanthomas over the calf regions; and corneal arcus in both eyes. Laboratory assessment revealed high Total Cholesterol (highest 689 mg/dl) and high LDL-C (highest 624 mg/dl). Genetic testing came back positive for an LDL Receptor mutation. Both his father and mother had elevated LDL-C levels. Based on history, clinical findings and investigations, we diagnosed him as Homozygous Familial Hypercholesterolemia. Treatment included lifestyle advice such as less fat intake, more fruit and vegetable intake, exercise and maintaining a normal weight; pharmacological management included Rosuvastatin 20 mg once daily and Ezetimibe 10 mg once daily. During the first and second follow-up, his LDL-C and Total Cholesterol levels showed limited reduction, so the dosage was escalated to Rosuvastatin 80 mg and Ezetimibe 20 mg. We also counselled about other appropriate lipid-lowering therapies. Conclusions: Familial Hypercholesterolemia is not only a disorder of elevated cholesterol—it is a lifelong cardiovascular risk condition. Timely diagnosis and intensive lipid-lowering therapy, together with screening of first-degree relatives, can substantially reduce the burden of premature cardiovascular disease. [J Assoc Clin Endocrinol Diabetol Bangladesh, 2026;5(Suppl 1): S82]
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Rumi et al. (2026) conducted a case report in Homozygous familial hypercholesterolemia (n=1). Rosuvastatin and Ezetimibe was evaluated on LDL-C and Total Cholesterol reduction. Rosuvastatin 20 mg and Ezetimibe 10 mg daily yielded limited LDL-C reduction in a 9-year-old with homozygous familial hypercholesterolemia (peak LDL-C 624 mg/dL), requiring escalation to 80/20 mg.
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