48- Lipid disorders

lovescoffee's version from 2011-10-25 07:11


Question Answer
associated with deficiencies of lipoprotein lipaseHyperlipoproteinemia Type 1
Hyper TG, Chylomicrons, Serum milky, High cholesterol, High TG, No AtherosclerosisHyperlipoproteinemia Type 1
Hyperlipoproteinemia Type 1Decreased lipoprotein lipase(LPL) or altered ApoC2-- < 1% (=rare)
idiopathic familial hyperlipemia: eruptive xanthomata of cheek, chin, ear and palateHyperlipoproteinemia Type 1
the most common formHyperlipoproteinemia Type 2
High cholesterol, Clear serum, XanthelasmaHyperlipoproteinemia Type 2
Corneal Arcus,Atherosclerosclerosis positive,Hyperlipoproteinemia Type 2
Associated wtih 4 genetic conditions (autosomal dominant)Hyperlipoproteinemia Type 2
Tendon & Tuberous XanthomasHyperlipoproteinemia Type 2
have only cholesterol LDL receptor deficiency (10%)Hyperlipoproteinemia Type 2 A
have both chol & TG d-ecreased LDL receptor and increased ApoB (40%)Hyperlipoproteinemia Type 2 B
This form is due to high chylomicrons and IDL Hyperlipoproteinemia Type 3
presence of ApoE E2/E2 genotype.Hyperlipoproteinemia Type 3
It is due to cholesterol-rich VLDL (β-VLDL). Prevalence is 0.02% of the population.Hyperlipoproteinemia Type 3
Serum appearance turbid Atherosclerosis +++ (atherogenic)Hyperlipoproteinemia Type 3
TG & cholesterol both greatly elevatedHyperlipoproteinemia Type 3
due to high triglycerides. It is also known as hypertriglyceridemia (or pure hypertriglyceridemia)Hyperlipoproteinemia Type 4
mutation in LP lipase geneHyperlipoproteinemia Type 4
This type is very similar to type I, but with high VLDL in addition to chylomicrons. It is also associated with glucose intolerance and hyperuricemiaHyperlipoproteinemia Type 5
Pancreatitis, Eruptive Xanthomas, Adults,< 5% of totalHyperlipoproteinemia Type 5
defective ABCA1 transporter. Autosomal Recessive Plasma cholesterol very lowFamilial alpha-Lipoprotein Deficiency Tangier's disease
Marked decreased HDL Triglycerides normal Polyneuropathy, lymphadenopathy Orange-yellow tonsilsFamilial alpha-Lipoprotein Deficiency Tangier's disease
Rare congenital Autosomal Recessive Defect in intestineA-beta-lipoproteinemia Bassen-Kornzweig Syndrome
No LDL, VLDL, & Chylomicrons Low Cholesterol & TG Burr cells (acanthocytes)A-beta-lipoproteinemia Bassen-Kornzweig Syndrome
Burr cells (acanthocytes) Failure to thrive Diarrhea, steatorrheaA-beta-lipoproteinemia Bassen-Kornzweig Syndrome
Extremely rare (prevalence 0.01-0.1%) inherited reduced LDL gene mutation of apo B Total cholesterol 70-120 mg/dlHypo-beta-lipoproteinemia
(Low HDL) associated with increased CAD: genetic or secondary to obesity, sedentary, cigarettes, diabetes, nephrotic syndr., medications (beta-blockers, diuretics, steroids, progestationals,..)Hypo-alphalipoprotenemia


Question Answer
increased lipoprotein is chylomicronI
increased lipoprotein is LDLIIa
increased lipoprotein is LDL and VLDLIIb
INcreased lipoprotein is remnants (chylomicrons) and IDLIII
Increased lipoprotein is VLDLIV
increased lipoprotein is VLDL and chylomicronsV
Increased lipid class is trigI and IV
increased lipid clss is cholesterolIIa
Increased lipid class is chol and trigIIb, III, V
Most common formsIV, IIb and IIa
Highest risk for atherogenicityIIa, IIb, and III
mutation in lipoprotein lipase geneI and IV
mutation in LDL receptor gene or in apolipoprotein B geneIIa
mutation in LDL receptor gene or in apolipoprotein B geneIIb
mutation in apolipoprotein E geneIII
mutation in apolipoprotein CII gene or in lipoprotein lipase geneV