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Citric acid cycle
Electron transport chain and oxidative phosphorylation
Pentose phosphate pathway
Physiological changes during exercise
Amino acid metabolism
Nitrogen and urea cycle
Fatty acid synthesis
Fatty acid oxidation
Ketone body metabolism
Hereditary fructose intolerance
Pyruvate dehydrogenase deficiency
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Glycogen storage disease type I
Glycogen storage disease type II (NORD)
Glycogen storage disease type III
Glycogen storage disease type IV
Glycogen storage disease type V
Metachromatic leukodystrophy (NORD)
Gaucher disease (NORD)
Niemann-Pick disease types A and B (NORD)
Niemann-Pick disease type C
Fabry disease (NORD)
Tay-Sachs disease (NORD)
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Ornithine transcarbamylase deficiency
Maple syrup urine disease
Disorders of carbohydrate metabolism: Pathology review
Disorders of amino acid metabolism: Pathology review
Disorders of fatty acid metabolism: Pathology review
Dyslipidemias: Pathology review
Glycogen storage disorders: Pathology review
Lysosomal storage disorders: Pathology review
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familial hypercholesterolemia p. 92
presentation p. 714
familial hypercholesterolemia p. 92
Jung Hee Lee, MScBMC
With familial hypercholesterolemia, familial means the disease runs in families, so it has a genetic predisposition, hyper means excess and lastly cholesterolemia refers to the level of cholesterol in the blood.
So, familial hypercholesterolemia is a genetic disorder associated with high levels of cholesterol in the blood.
Now, cholesterol is a lipid molecule, so a type of fat, that normally helps maintain the structure of cell membranes, and is a precursor to steroid hormones, bile acids, and vitamin D.
There are two main types of cholesterol: LDL or Low Density Lipoprotein which is sometimes called “bad cholesterol,” nad HDL or High Density Lipoprotein which is sometimes called “good cholesterol.”
But good and bad is overly simplistic, and like all things - the subtleties matter.
LDL is produced by the liver and it carries cholesterol out to the rest of the body.
If all of the cholesterol from LDL is not completely distributed to the peripheral cells, then HDL brings some of that cholesterol back from the peripheral tissues and sends it to the liver.
Now, what makes LDL bad and HDL good is that, whenever there’s a high blood concentration of LDL, the LDL can be ingested by macrophages that sit along vessel walls, forming atherosclerotic plaques.
Over decades, large atherosclerotic plaques can lead to myocardial infarctions, strokes, and peripheral vascular disease.
That’s why we want to keep LDL blood levels under control.
On the other hand, HDL can remove cholesterol from cells and that can help reverse the process of atherosclerosis.
Familial hypercholesterolemia (FH) is an autosomal dominant condition in which there are abnormally high levels of LDL cholesterol in the blood. The condition increases a person's risk for heart disease and other serious health problems. FH is caused by defects in one of several genes that control the amount of cholesterol in the blood. People with FH can present with xanthomas (fats build up under the skin), xanthelasma (fats build up in the eyelids), fatty liver, and pancreatitis.
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