Dyslipidemias are all disturbances of plasma lipid concentration and distribution.
Primary forms of dyslipidemia can be distinguished from secondary forms that result from metabolic disturbances. Both primary and secondary forms can have a genetic background.
Biochemically secondary forms are mostly mixed lipid disorders affecting both triglycerides and cholesterol. By contrast, primary diaorders can be well distinguished biochemically. Depending on the tests applied two different classifications ensue. Based on triglycerides and holesterol and occasionally chylomicrons, a more simple and clinically often sufficient classification is proposed. An other more subtile classification requires measuring all lipoprotein fractions separately. The latter classification allows better prediction which genes might be mutated.
Dyslipidemias are easily detected by blood tests. Sometimes more subtile disturbances escape detection by simple cholesterol and triglycerides measurements, so often a test of lipoprotein fractions is required. Though detection is quite simple, classification and pathogenetic diagnosis is more complex and requires to consider a wide spectrum of diferentials.
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Orphanet article Orphanet ID 412 |
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Wikipedia article Wikipedia EN (Dyslipidemia) |