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Hypolipoproteinemia, hypolipidemia, or hypolipidaemia (British English) is a form of dyslipidemia that is defined by abnormally lowered levels of any or all lipids and/or lipoproteins in the blood. It occurs in genetic disorders (e.g. hypoalphalipoproteinemia , hypobetalipoproteinemia ), malnutrition , malabsorption , wasting disease , cancer ...
[136] [137] [138] Inheritance of all forms of 21-hydroxylase CAH is autosomal recessive, [4] except some mild disease-causing variants such as p.V281L that seem to exert dominant negative effects on enzymatic activity. [2] Persons affected by any form of the disease have two abnormal alleles, and both parents are usually heterozygotes (or ...
An important non-pharmacological intervention in dyslipidemia is a diet aimed at reducing blood lipid levels and also weight loss if needed. These dietary changes should always be a part of treatment and the involvement of a dietician is recommended in the initial evaluation and also in follow-up as well.
Lecithin cholesterol acyltransferase deficiency is a disorder of lipoprotein metabolism. [1] The disease has two forms: [2] Familial LCAT deficiency, in which there is complete LCAT deficiency, and Fish-eye disease, in which there is a partial deficiency.
The diagnosis of familial lipoprotein lipase deficiency is finally confirmed by detection of either homozygous or compound heterozygous pathogenic gene variants in LPL with either low or absent lipoprotein lipase enzyme activity. [citation needed] Lipid measurements · Milky, lipemic plasma revealing severe hyperchylomicronemia; [citation needed]
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Tangier disease or hypoalphalipoproteinemia is an extremely rare inherited disorder characterized by a severe reduction in the amount of high density lipoprotein (HDL), often referred to as "good cholesterol", in the bloodstream. [2]
Hypobetalipoproteinemia is a disorder consisting of low levels of LDL cholesterol or apolipoprotein B, [1] below the 5th percentile. [2] The patient can have hypobetalipoproteinemia and simultaneously have high levels of HDL cholesterol.