Document Detail

Homozygous familial hypercholesterolemia: case report of a rare cause of dyslipidemia.
MedLine Citation:
PMID:  22027071     Owner:  NLM     Status:  MEDLINE    
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.
Cresio Alves; Zilda Braid
Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Pediatric endocrinology, diabetes, and metabolism     Volume:  17     ISSN:  2081-237X     ISO Abbreviation:  Pediatr Endocrinol Diabetes Metab     Publication Date:  2011  
Date Detail:
Created Date:  2011-10-26     Completed Date:  2011-12-20     Revised Date:  2014-05-22    
Medline Journal Info:
Nlm Unique ID:  101518750     Medline TA:  Pediatr Endocrinol Diabetes Metab     Country:  Poland    
Other Details:
Languages:  eng     Pagination:  162-5     Citation Subset:  IM    
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MeSH Terms
Anticholesteremic Agents / therapeutic use
Child, Preschool
Cholesterol / blood*
Hydroxymethylglutaryl-CoA Reductase Inhibitors / therapeutic use
Hypercholesterolemia / blood*,  complications*,  drug therapy
Xanthomatosis / drug therapy,  etiology*
Reg. No./Substance:
0/Anticholesteremic Agents; 0/Hydroxymethylglutaryl-CoA Reductase Inhibitors; 97C5T2UQ7J/Cholesterol

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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