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IFM Study > Cardiometabolic APM > Flashcards

Cardiometabolic APM Flashcards

1
Q

What is the most common autosomal dominant genetic disease?

A

Familial Hypercholesterolnemia

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2
Q

What age can heterozygotes of FH develop premature CVD?

A

30-40’s

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3
Q

What is most common genetic form of FH and what is the incidence?

A

Heterozygote -1/250

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4
Q

What age do homozygotes FH develop premature CVD?

A

Childhood, homozygotes rare 1/300000-400000

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5
Q

What is risk in men if untreated FH?

A

50% will have MI by age 50

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6
Q

What is risk in women if untreated FH?

A

30% will have MI by age 50

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7
Q

What percentage of all MIs before age 45 are due to FH?

A

20%

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8
Q

What 3 mutations do 95% of FH have?

A

LDLR - 93%
APOB - 5%
PCSK9 - 2%

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9
Q

What is criteria for dx of FH?

A

LDL > 190 and first degree relative with LDL >190

or Known premature CHD < 55 yo men or 60 yo women

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10
Q

What is difference between rosuvastatin and atorvastatin in terms of metabolism?

A

Rosuvastatin - doesn’t go thru CP450, renally excreted so may need renal adjustment
Atorvastatin - goes thru Cyp450 so use caution if liver disease, but no renal dosing required.

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11
Q

What are some examples of methylation reactions?

A
  1. Hcy needs a methyl group to become SAMe
  2. Tyrosine needs methyl group to become dopamine and norepinephrine
  3. Tryptophan gets methylated to serotonin and then melatonin
  4. Histamine needs methylated to be broken down
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12
Q

What are some symptoms of overmethylation?

A

Anxiety/depression
Paranoia
Sleep problems
Low libido

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13
Q

What are symptoms of undermethylation?

A 
Fatigue
Depression
OCD
HA
Histamine overload
High libido
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14
Q

Which genetic mutation increases risk for HTN and CVD?

A

MTHFR(in conjunction with high Hcy)

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15
Q

What is a major methyl donor?

A

Methyl folate

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16
Q

What step does MTHFR enzyme work?

A

Last step in folate metabolism

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17
Q

What does methylation metabolize?

A

Neurotransmitters, hormones, drugs, xenobiotics

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18
Q

What is methylation needed for?

A

Metabolism of NT, Hormones, Drugs, Xenobiotics

Repressing gene transcription

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19
Q

What processes do you need Methylfolate for?

A
  1. BH2 to BH4 which is needed for several processes

2. Hcy to Methionine to eventually make SAMe

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20
Q

What processes do you need BH4 for?

A

Tryp to 5HTP
Lphenylalanine to Tyrosine to L dopa
Arginine to make NO and Citrulline

21
Q

What does serotonin need to make melatonin?

A

SAMe

22
Q

What B vitamins do you need for MTHFR?

A

B6(P5P is methylated form)

B2(Riboflavin biphosphate is methylated form)

23
Q

What B vitamin is needed to convert Hcy to methionine via MS?

A

B12

24
Q

What happens with Substance P if serotonin decreases? and what does this lead to?

A

Increases leading to FM and lower pain threshold. Can give 5HTP and LS changes

25
Q

Describe importance of MTRR?

A

MTRR converts cobalamin(B12) to methylcobalamin which gives methyl group to MTR(MS). MTR is used to covert Hcy(which is carried by zinc) using B12 and 5MTHF To make methionine

26
Q

How does Hcy directly make Methionine?

A

Via BHMT pathway using TMG(Betaine, not Betaine HCL)

27
Q

How does Hcy make Glutathione?

A

Gets coverted to Cystathionine with B6 and then to Cysteine using B6 which then gets coverted to GSH or Taurine

28
Q

What blocks Methionine Synthase?

A

ETOH

29
Q

What clue on bloodwork can indicate dysfunction with Methoinine Synthase?

A

Elevated MCV

30
Q

What enzyme is the only enzyme in brain capable of coverting Hcy to Methionine?

A

Methionine Synthase

Of note research linking to CVD is lacking

31
Q

What enzyme is needed to recycle Hcy to SAMe?

A

Methionine Synthase

32
Q

What do you have to be careful with if you give SAMe as a supplement?

A

Watch Hcy levels as SAMe gets used up, it can get converted to Hcy

33
Q

What are some MTHFR SNP considerations?

A

Optimize Hcy to under 7.
Increase dietary sources of folate - green leafy veggies, legumes, seeds and uncooked plant foods
Supplement with B6 and B2
Bypass MTHFR by giving methyl folate supplementation

34
Q

Describe pathway of folic acid to 5-MTHF

A

Folic acid(supplement, fortified foods) goes to DHF(dietary form) to TH4 folate. Then using B6 to 5,10 methylene TH4 folate and then using B2 to 5-MTHF

35
Q

What are some MS SNP considerations?

A 
Optimize Hcy levels
Monitor MCV
Avoid etoh and candida overgrowth
Support zinc, B12, 5-MTHF
If have high homocysteine not budging, consider giving TMG for BHMT pathway
36
Q

What is COMT needed for?

A

Break down catecholamines and estrogen metabolism

37
Q

What hormonal condition can dysfunctional COMT lead to?

A

Estrogen Dominance

38
Q

What happens in terms of catecholamines if you have low SAMe?

A

Can’t break them down via COMT; It also requires Mg

39
Q

What does Val/Val COMT SNP mean?

A

Up regulated so Fast metabolizer; can have decreased concentration. Can benefit from stimulant if needed.

40
Q

What does Val/Met COMT SNP mean?

A

Normal

41
Q

What does Met/Met COMT SNP mean?

A

Down regulated so Slow metabolizer, have increased anxiety and estrogen and won’t benefit from stimulant.

42
Q

In regards to COMT SNPs, what women would benefit from aspirin and Vitamin E?

A

Met/Met have 40% decrease risk CVD. Val/Val have 85% increase risk with asa and increased risk with vitamin E

43
Q

What SNP does heavy coffee consumption increase acute coronary events risk?

A

COMT Met/Met; Caffeine stimulates NorEpi and Epi production.

44
Q

What are some COMT Val/Val SNP considerations?

A

Can appear normal on some genetic panels
Upregulated COMT
Can give quercetin and EGCG to block enzyme
Can also give Tyrosine which converts to dopamine and Norepi

45
Q

What is required for COMT to convert Norepi and Epi to VMAs?

A

SAMe and Mg

46
Q

What are some considerations for COMT Met/Met SNP?

A 
Looks abnormal on most panels
Stress mgmt, avoid caffeine
Consider SAMe and Mg
Support MS enzyme
Consider creatine as body uses this to make SAMe
Optimize estrogen(DIM, Sulphoraphane)
Use asa, vit E in women when appropriate
47
Q

Do you get over or undermethylated when you have MTHFR and COMT Met/Met SNPs?

A

Overmethylated

48
Q

What can you do for MTHFR and COMT Met/Met SNP combo?

A

Hold methylated supplement
Give SAMe and Mg
Consider Creatine
Slowly introduce methylfolate at lower doses later
Consider nonmethylated B12(hydroxycobalamin)
Consider GSH, NAC

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