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Medical > Familial

The following information is about Familial.

Familial Defined

A term describing a disorder or characteristic (such as male pattern baldness) that occurs within a family more often than would be expected

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  • familial triglyceridaem ia - General Practice Notebook: Severe hypertriglycer idemia >10 mmol/L This is characterised by increased plasma levels of chylomicrons and VLDL (high VLDL production, decreased lipoprotein lipase activity) [Fredrickson type V]. When fasting triglycerides exceed 10 mmol/L chylomicrons will also be a major contributor to hyperlipidaemi a - this is because chylomicrons and VLDL compete for the same clearance mechanism in the circulation (lipoprotein lipase). Rarely severe hypertriglycer idaemia is caused by familial lipoprotein lipase deficiency (inherited as an autosomal recessive trait) - usually this is due to a mutation in the lipoprotein lipase gene but occasionally it results from a deficiency of apo CII, the activator of lipoprotein lipase. inherited causes of a raised triglyceride include familial combined hyperlipidaemi a and lipoprotein lipase deficiency Massive hypertriglycer idaemia (fasting >11mmol/L) is associated with risk of acute pancreatitis (1).

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