7 and 10 Lipid Disorders and Case review Flashcards by Meghan May

2 yo with severe abdominal pain and rash, draw blood and and overnight in fridge seperates out to blood and fat. Why

Hyperchylomicronemia

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Rare disease of childhood or seen in Type V adults

Genetically absent or redueced LPL or apoC2 or apoC3

Hyperchylomicronemia

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What do we expect to see for TG in hyperchylomicronemia

TG from 2000 to 25000

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Function of chylomicrons

carry mostly TG from gut to liver

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Long term tx for hyperchylomicronemia

near total fat restriction and use of medium chain fatty acids to bypass more common long chain FAs

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What happens microscopically during atherosclerosis

LDL crosses into endothelium into the intima
Monocytes phagocytize cholesterol
Cholesterol gets oxidixed
Vascular adhesion and metalloporoteinases activated to remodel the artrial wall
SMS migraiton
foam cell formation

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Pt history:
nonsmoking, asymptomatc female athlete, had high cholesterol since college, father had heart stents placed in mid 50s but didn't have a heart attack
BP: 118/72 and BMI of 23
TC; 305    TG:55    HDL:85     LDL:209
Whats her risk for ASCVD?

Increased and we need to start tx today

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Pt history:
nonsmoking, asymptomatc female athlete, had high cholesterol since college, father had heart stents placed in mid 50s but didn't have a heart attack
BP: 118/72 and BMI of 23
TC; 305    TG:55    HDL:85     LDL:209
DX?

Type IIA Familial Hypercholesterimia

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Whats the metabolic issue with Type IIA Familial HYpercholesterimia?

LDL-R is defective, won’t remove cholesterol form circulation
–mutation in LDL-R, ApoB or PSCK9 GOF mutation

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Tx recommendation for Type IIA Hypercholesterimia

High dose high intensity statins to decrease intracellular cholesterol, activate nuclear receptors and upregulate production of LDL-R

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Pt goes undiagnosed with Type IIA Familial Hypercholesterimia until age 42. Comes in with chest pain, dyspnea on exertion: Dx?

Myocardial infarction (heart issues)
see on EKG and enZ that pt had an infarct...recommend emergency angiogram and place stents

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What tx do you recommend to a pt that has children and is diagnosed with Type IIA familial hypercholesterimia

Have kids on heart healthy diet and exercise as well as have lipids checked and tx if elevated (if over 12 years)

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Pt Hx
45yo male smokes 1ppd
BP: 135/85 BMI:32 Waist:39 FBS:94
Exercise; none and has 2-4 beers a day
TC is 210 TG:165 HDL:40 LDL:137 nonHDL:170
What is he most at risk for?

Atherosclerotic heart disease

smoking causes more heart disease then cancer

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What is the leading cause of disease and death

ASCVD

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ASCVD stands for what diseases?

Aterosclerotic CV Disease

Heart attacks + STrokes + Peripheral Arthery Disease

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CAD stands for

Coronary Atheroscloerotic Disease

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Whats the biggest RISK of MI

LDL:HLD (then diabetes, smoking, HTN..)

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Lifestyle can make a ____ differenct from lowest to highestl quintile in lifetime ASCD risk

10 fold

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What are Heart healthful meausures for
BMI
BP
FBS

BMI <100

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LDL-C >100

HDL <40

risk for ASCVD

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TRIG 200-499 risk for

>1000 at risk for

CAD

risk for pancreatitis

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Normal vs Optimal for:
HDL
LDL
TC
TG

Normal HDL: M>40 and F>50~ same for optimal

Normal LDL: <75

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Which types of lipid disorders are predominantely genetic with minimal lifestyle influence?

Type I and IIA

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Which lipid disorders are dormand until lifestyle (diabesity) or other disease (diabetes) unmask them

Type IIB, III, IV, and V

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What lipoprotein is in excess in Type I severe hypertriglylceridemia?

Excess chylomicron bc we can't off load TG they pick up in enterocyte d/t LPL or apoC2/C3 defect

What defect do we see in Type I hyperTG?

LPL or apoC2/C3

In a lipid panel, you see TG in chilld >2000, what do you suspect?

Type I hyperTG d/t LPL or apoC2/3 defect

Common presentation of IIa Familial Hypercholesterimia

see CAD < age of 60

In IIa familial hypercholesterolemia, what is the primary defect... what does this result in?

Defect of LDL-R--> end up with excess LDL

What lipid panel would we see in someone with IIa?

TC>275 and LDL-C >190 d/t LDL-R defect

Do we see TG abnormalities in IIa?

NOPE. just elevated LDL and TC

What risk are you at with CAD if you have IIb familial combined hyperlipidemia or with Metabolic syndrome?

CAD is 2x normal risk despite borderline lipid numbers

What lipoproteins are in excess in IIb familial combined hyperlipidemia or with metabolic syndrome

Excess LDL and VLDL | also more LDL-P

``` lipid panel: LDL 100 TG: 200-500 HDL <40 pt at 2x risk for CAD ```

This is IIb familial combined hyperlipidemia or with metabolic syndrome

What is the primary defect in IIb?

overproduciton of apoB100

What is the role of Hepatic lipase in IIb familial combined?

Pt has High TGS that drive CETP CETP moves TG to LDL and HDL When you have LDL with lots of TG, Hepatic lipase is all like, wow, too much and then makes sdHDL and sdLDL

What is the funciton of CETP?

Takes VLDL to HDL or LDL | see increased VLDL in high central adiposity or insulin resistance

Type III Dysbetalipoproteinemia causes premature CAD and is d/t :

overproduction of ApoE2/E2 + envirornment

What is the role of ApoE2 in Type III Dybetalipoproteinimeia?

ApoE2/E2 is poorly recognized on IDL by the LDL-R so doesn't get taken up

What abnormal lipids do we expect to see in Type III Dybetalipoproteiniemia

TC and TG bonth 200 to 500

pts comes in with TC andn TG both 200 to 500 and excess VLDL and IDL with nodules on knees and orange creases on hands. Dx

Type III

What lipoproteins are in excess in pt with type III dybetaliporoteinmia

excess VLDL and IDL

Type IV hypertriglyceridemia can lead to

pancreatitis (not diabetic releated)

What lipoprotein is in excess in pt with Type IV hyperTG?

excess VLDL

What is our primray defect in type IV hyperTG?

defect of LPL or ApoC3 (means VLDL will accumulate)

What lpids are abnormal in pt with type IV hyperTG

TGS between 500-1000

Pt comes in with TG between 500-1000 and and exces VLDL, what is the primary defect

Type IV hyperTG: | defect is ApoC2 or LPL thus can't break down VLDL

Pt comes to clinic with TC>275 and LDL-C >190 with an excess LDL level. What is the primary defect

LDL-R; patient has IIa familial hypercholesterolemia

YOung pt comes in with TG over 2000, what lipoprotein would you expect to be in excess?

has Type I severe hypterTG | mutation in LPL or apoC2/C3 thus very high chylomicrons bc they can't offload

Pt comes in with excess LDL and VLDL. | His LDL is around 100 but had TG 200-500 with low HDL, what is the defect

Overproduction of apoB100: | Type IIB famililal hyperlipidemia or with metabolic syndrome

Pt comes in with elevated TC and TG both between 200-500. Here VLDL and IDL are elevated. DX?

Type III Dysbetalipoproteinemia, | Dt ApoE2 overproduction

Type V Familial hyperTG is dt defect where?

On the ApoC2 or C3 on BOTH VLDL and chylomicron

What Lipoproteins are elevated in Type V familial hyperTG?

VLDL and chylomicron

What does a lipid panel for pts with Type V familial hyperTG look like

TGs >1000 | also have elevated chyomicrons and VLDL

Pt comes in with TG>1000 and elevated chylomicrons and VLDL, what do you expect primary defect is?

ApoC2 or C3 on both chylomicron and VLDL isn't fnx properly

VLDL, chylomicrons and IDL are primary filled with:

TGs

elevated LDL, smoking, high BP and Family Hx all CV risk factors that cause:

LDL infiltrate into intima

90% of circulating cholesterol is

LDL

What lipoproteins are risk factors for atherosclerosis

IDL (VLDL remnants) and LDL | IDL and VLDL remntants as well

pt had apoA1 mutation means they cannot make

HDL = increased risk for disease

most potentially lethal inherited disease in world; see heterozygotes 1/500 and is autosomal dominant most often

famililal hypercholesterolemia --> 50% males have MI or die from MI by 55, females by 65 LDL is 2X to 5X normal since birth tx with statins to lower LDL by 12 yo to decrease risk

What catabolized LDL-R

PCSK9

Metabolic syndrome_____ risk of CAD even in absence of diabetes

doubles risk increases LDL-P increases VLDL remnants can cause atherogenic dyslidemia

``` AHA criteria for Metabolic syndrome waist for men and women TG for men and women HDL for men and women BP FBG ```

waist men: >40 in and women >35 TBS for both >150 HDL for men 135/85 and women 135/85 FBG for both >100

Visceral adiposity and insulin resistance drive FFA to liver where TG-rich_____ are pushed into circulation

VLDL

What enZ acts on VLDL to make HDL and LDL

CETP

what enZ acts on LDL and HDL to make them sdHDL and sdLDL?

hepatic lipase

7 and 10 Lipid Disorders and Case review Flashcards

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