Cholesterol Synthesis Disorders Flashcards
Mutation of 7-dehydrocholesterol reductase
Causes the inability to correctly produce or synthesize cholesterol due to a low occurence of 7-DHC reductase
Smith-Lemli-Opitz Syndrome (SLOS)
Most common cause of inborn error of cholesterol synthesis
Smith-Lemli-Opitz Syndrome (SLOS)
Microcephaly Diffuse cognitive delay Malformations of heart, genitals, lung, kidneys, GI May be mistaken for autism Polydactyly Syndactyly
Molecular genetic analysis of DHCR7 gene can confirm the diagnosis
Smith-Lemli-Opitz-Syndrome (SLOS)
Overproduction of VLDL
Decreased clearance of VLDL
Obese
Glucose intolerance
Endogenous Hypertriglyceridemia
Metabolic syndrome
Deficiency of LDL receptor
> 500 mg/dL LDL
inc cholesterol
Normal TAG
Tendinous Xanthomata
Early adverse sclerotic cardiovascular disease
Familial Hypercholesterolemia Type II
Familial Hypercholesterolemia Type II treatment
Statin
Cholestyramine
Liver transplant (Homozygous)
How can a statin induce renal failure?
Can induce rhabdomyolysis which is toxic to the kidney
Statins should be taken at
Night because they are active at 8-9pm with maximal hepatic cholesterol synthesis
Except atorvastatin which can be taken anytime due to long half life
The only renally cleared statin
Fluvostatin
Deficiency of lipoprotein lipase or cofactor apolipoprotein C-II
Increased chylomicrons
Decreased to normal LDL
Hyperchlyomicronemia Type I
Patient’s serum is grossly milky
Xanthoma
Severe Abdominal pain
Hyperchylomicronemia Type I
Pancreatitis in infancy
Severe abdominal pain
Hyperchylomicronemia Type I
Treatment for hyperchylomicronemia type I
Low fat diet
Abnormal apolipoprotein E
Absent chylomicrons
Abnormal LDL
Abnormal VLDL
Severe elevations of cholesterols and triglycerides
Planar xanthomas
Premature peripheral cardiovascular coronary disease
Dysbetalipoproteinemia Type III
Premature peripheral vascular and coronary artery disease
Hypercholesterolemia Type II
Dysbetalipoproteinemia Type III
