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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 ...
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]
Symptoms of the familial form include visual impairment caused by diffuse corneal opacities, target cell hemolytic anemia, and kidney failure. Less common symptoms include atherosclerosis , hepatomegaly (enlarged liver), splenomegaly (enlarged spleen), and enlarged lymph nodes .
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.
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Apolipoprotein B deficiency is an autosomal dominant disorder resulting from a missense mutation which reduces the affinity of apoB-100 for the low-density lipoprotein receptor (LDL Receptor).
Abetalipoproteinemia (also known as: Bassen–Kornzweig syndrome, microsomal triglyceride transfer protein deficiency disease, MTP deficiency, and betalipoprotein deficiency syndrome [2]) is a disorder characterized by abnormal absorption of fat and fat-soluble vitamins from food. [3]
Hyperlipidemia is abnormally high levels of any or all lipids (e.g. fats, triglycerides, cholesterol, phospholipids) or lipoproteins in the blood. [2] The term hyperlipidemia refers to the laboratory finding itself and is also used as an umbrella term covering any of various acquired or genetic disorders that result in that finding. [3]