Clinical disorders of lipid metabolism

Published on 01/03/2015 by admin

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Last modified 01/03/2015

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Clinical disorders of lipid metabolism

Lipoprotein disorders are some of the commonest metabolic diseases seen in clinical practice. They may present with their various sequelae which include:


Currently there is no satisfactory comprehensive classification of lipoprotein disorders. Genetic classifications have been attempted but are becoming increasingly complex as different mutations are discovered (Table 67.1). Familial hypercholesterolaemia (FH), which may present with xanthelasma (Fig 67.1), tendon xanthomas, severe hypercholesterolaemia and premature coronary heart disease, may be due to any of over 500 different mutations of the LDL receptor gene. Mutations of the apolipoprotein (apo) B gene can give an identical syndrome. Familial hyperchylomicronaemia, which presents with recurrent abdominal pain and pancreatitis, may result from genetic mutations of the lipoprotein lipase or apo C-II genes. Eruptive xanthomas (Fig 67.2) are characteristic of hypertriglyceridaemia.

Until gene therapy and/or specific substitution therapy become more widely available, genetic classifications, while biologically illuminating, are unlikely to prove very useful in practice. In practice, lipoprotein disorders are simplistically classified as being:

image Primary – when the disorder is not due to an identifiable underlying disease.

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