Pinpoint skin lesions in a familial hypercholesterolaemia homozygote
| Autor: | HJ Milionis, George Miltiadous, Marios A. Cariolou, Elisaf |
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| Rok vydání: | 2007 |
| Předmět: |
medicine.medical_specialty
Cholestyramine medicine.diagnostic_test Vascular disease Cholesterol business.industry Blood lipids Physical examination General Medicine Xanthoma medicine.disease Gastroenterology chemistry.chemical_compound Endocrinology chemistry Internal medicine Pediatrics Perinatology and Child Health medicine lipids (amino acids peptides and proteins) Family history Lipid profile business medicine.drug |
| Zdroj: | Acta Paediatrica. 92:1109-1110 |
| ISSN: | 0803-5253 |
| DOI: | 10.1111/j.1651-2227.2003.tb02586.x |
| Popis: | UNLABELLED The case is reported of a 2-y-old girl referred to the outpatient lipid clinic because of a tiny cutaneous xanthoma on the dorsum of the left foot and a family history of hyperlipidaemia and coronary heart disease (CHD). Fasting serum total cholesterol levels were remarkably high (27.1 mmol l(-1), 1050 mg dl(-1)) and DNA analysis confirmed homozygous familial hypercholesterolaemia (class II mutation). Serum lipids were not affected by dietary intervention and cholestyramine treatment, so low-density lipoprotein apheresis was scheduled to commence at the age of 4 y. CONCLUSION An early lipid profile determination should be performed in children with a family history of premature CHD, since the physical examination may be unremarkable even in cases of severe hyperlipidaemia during the first years of life. |
| Databáze: | OpenAIRE |
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