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FH needs to be distinguished from familial combined hyperlipidemia and polygenic hypercholesterolemia. Lipid levels and the presence of xanthomata can confirm the diagnosis. Sitosterolemia and cerebrotendineous xanthomatosis are two rare conditions that can also present with premature atherosclerosis and xanthomas. Generally, cholesterol ...
Familial hypertriglyceridemia (type IV familial dyslipidemia) is a genetic disorder characterized by the liver overproducing very-low-density lipoproteins (VLDL). As a result, an affected individual will have an excessive number of VLDL and triglycerides on a lipid profile. This genetic disorder usually follows an autosomal dominant inheritance ...
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]
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In familial hypercholesterolemia, a mutation in the LDLR, PCSK9, or APOB is usually the reason for this and these mutations result in high LDL cholesterol. [8] In combined hyperlipidemia, there is an overproduction of apoB-100 in the liver. [9] This causes high amounts of LDL and VLDL molecules to form. [9]
Remnant hyperlipidemia, Remnant hyperlipoproteinaemia, Broad beta disease [1] and Remnant removal disease [1] Familial dysbetalipoproteinemia is caused by this point mutation in ApoE Specialty
Familial combined hyperlipidemia (FCH) is the familial occurrence of this disorder, probably caused by decreased LDL receptor and increased ApoB. Acquired combined hyperlipidemia is extremely common in patients who have other diseases from the metabolic syndrome ("syndrome X", incorporating diabetes mellitus type II , hypertension , central ...
Hypercholesterolemia, also called high cholesterol, is the presence of high levels of cholesterol in the blood. [1] It is a form of hyperlipidemia (high levels of lipids in the blood), hyperlipoproteinemia (high levels of lipoproteins in the blood), and dyslipidemia (any abnormalities of lipid and lipoprotein levels in the blood). [1]