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Familial hypercholesterolemia (FH) is a genetic disorder characterized by high cholesterol levels, specifically very high levels of low-density lipoprotein cholesterol (LDL cholesterol), in the blood and early cardiovascular diseases.
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.
Sitosterolemia may share several clinical characteristics with the well-characterized familial hypercholesterolemia (FH), such as the development of tendon xanthomas in the first 10 years of life and the development of premature atherosclerosis.
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]
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]
For example, familial hypercholesterolemia (Type IIa hyperlipoproteinemia) may be associated with xanthelasma palpebrarum (yellowish patches underneath the skin around the eyelids), [13] arcus senilis (white or gray discoloration of the peripheral cornea), [14] and xanthomata (deposition of yellowish cholesterol-rich material) of the tendons ...
Familial dysautonomia: Neurology Autosomal recessive IKBKAP: 1/30 Familial hypercholesterolemia: Endocrinology, chemical pathology Autosomal dominant LDLR: 1/69 Familial hyperinsulinism: Gastroenterology, endocrinology, pediatrics Autosomal recessive ABCC8: 1/125–1/160 Fanconi anemia C: Hematology Autosomal recessive FACC: 1/100 Gaucher disease
Hypertriglyceridemia is the presence of high amounts of triglycerides in the blood.Triglycerides are the most abundant fatty molecule in most organisms. Hypertriglyceridemia occurs in various physiologic conditions and in various diseases, and high triglyceride levels are associated with atherosclerosis, even in the absence of hypercholesterolemia (high cholesterol levels) and predispose to ...