Familial hypercholesterolemia
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Familial hypercholesterolemia
Biochemistry
Biochemistry and metabolism
Glycolysis
Citric acid cycle
Electron transport chain and oxidative phosphorylation
Gluconeogenesis
Glycogen metabolism
Pentose phosphate pathway
Physiological changes during exercise
Amino acid metabolism
Nitrogen and urea cycle
Fatty acid synthesis
Fatty acid oxidation
Ketone body metabolism
Cholesterol metabolism
Metabolic disorders
Essential fructosuria
Hereditary fructose intolerance
Galactosemia
Pyruvate dehydrogenase deficiency
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Lactose intolerance
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
Leukodystrophy
Metachromatic leukodystrophy (NORD)
Krabbe disease
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)
Cystinosis
Hartnup disease
Alkaptonuria
Ornithine transcarbamylase deficiency
Phenylketonuria (NORD)
Cystinuria (NORD)
Homocystinuria
Maple syrup urine disease
Abetalipoproteinemia
Familial hypercholesterolemia
Hypertriglyceridemia
Hyperlipidemia
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
Assessments
Familial hypercholesterolemia
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USMLE® Step 1 questions
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Familial hypercholesterolemia
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Questions
USMLE® Step 1 style questions USMLE
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Reproduced from: Wikimedia Commons
Which of the following conditions has the same inheritance pattern as this patient’s condition?
External References
First Aid
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Corneal arcus
familial hypercholesterolemia p. 92
Familial hypercholesterolemia p. 58, 92
presentation p. 714
Tendinous xanthomas p. 307
familial hypercholesterolemia p. 92
External Links
Transcript
Content Reviewers
Viviana Popa, MDContributors
Anuj Paul
Michael Carrese
Jung Hee Lee, MScBMC
Evan Debevec-McKenney
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.
Summary
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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