Homozygous familial hypercholesterolemia: case report of a rare cause of dyslipidemia Homozygotyczna rodzinna hipercholesterolemia. Opis przypadku dotycz cy rzadkich przyczyn dyslipidemii

A 4-year-old boy was evaluated for severe hypercholesterolemia (cholesterol: 831 mg/dL) and disseminated xanthomas. Both parents had hypercholesterolemia: mother (cholesterol: 308 mg/dL) and father (cholesterol: 281 mg/dL). There was no family history of cardiovascular disease. Skin examination showed: intertriginous xanthomas of feet and hands, tuberous xanthomas in knees and elbows, tendinous xanthomas in Achilles tendon and xanthomas in the gluteal region, associated with corneal arc bilaterally. Laboratory work-up excluded secondary causes of hypercholesterolemia and a diagnosis of homozygous familial hypercholesterolemia was made. Echocardiogram showed bicuspid aortic valve and mild aortic insufficiency. Doppler ultrasound of carotid arteries and computerized tomography of the thorax for assessment of calcium scoring were normal. The patient’s serum lipids were reduced by approximately 40% after a diet, atorvastatin and ezetimibe. Homozygous familial hypercholesterolemia is an important risk factor for atherosclerosis and premature coronary artery disease in children and young adults. Early diagnosis and treatment with screening of first-degree relatives is essential to minimize the progression of cardiovascular disease in these patients.