FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ......
Transcript of FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ......
![Page 1: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/1.jpg)
Preetha Krishnamoorthy
![Page 2: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/2.jpg)
Disclosure Statement No conflicts of interest to disclose
![Page 3: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/3.jpg)
Objectives Clinical cases
General approach to:
Diabetes
Obesity
Dyslipidemia
IN KIDS!
![Page 4: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/4.jpg)
Case 15 year-old boy comes in with a 3-week history of
polyuria, polydipsia, noctiuria
Weight loss of 10 lbs
Past medical history unremarkable
Family history unremarkable
Physical examination reveals a thin yet well-looking
young man, unremarkable
![Page 5: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/5.jpg)
Case What is the first and easiest thing to do in the office
setting?
Urinalysis
Glucosuria and ketonuria
ER to document blood glucose (and blood gas) and
start treatment
![Page 6: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/6.jpg)
Question How many of you are certain this is type 1 diabetes?
How many of you are certain this is type 2 diabetes?
![Page 7: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/7.jpg)
Diagnosis CDA guidelines:
Symptoms
Random BG > 11.1 mmol/L
This does not distinguish type 1 versus 2
Clinical diagnosis
![Page 8: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/8.jpg)
Case 15 year-old boy with a 3-week history of polyuria and
polydipsia
Weight loss of 30 lbs. over the past 4 months
Starting weight of 250 lbs.
Past medical history unremarkable
Family history positive for obesity and type 2
diabetes in his father
Physical exam reveals obesity, nil else significant
![Page 9: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/9.jpg)
Case In such a scenario, which investigations would you
want to do:
Urinalysis?
Blood glucose?
Oral glucose tolerance test?
Blood gas?
![Page 10: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/10.jpg)
Case In such a scenario, which investigations would you
want to do:
Urinalysis?
Blood glucose?
Oral glucose tolerance test?
Blood gas?
![Page 11: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/11.jpg)
OGTT Valuable test used in the diagnosis of diabetes
More sensitive than a fasting blood glucose
Will give you the answer
But not necessary in this scenario
Diagnostic criteria: remember in the face of
symptoms, random BG > 11.1 mmol/L is enough
![Page 12: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/12.jpg)
Case How many of you are certain this is type 1 diabetes?
How many of you are certain this is type 2 diabetes?
![Page 13: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/13.jpg)
Case CLINICAL PICTURE!
Baseline weight/BMI
Family history
Acanthosis nigricans
![Page 14: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/14.jpg)
![Page 15: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/15.jpg)
![Page 16: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/16.jpg)
Type 1 versus Type 2 What tests can we do to distinguish between the
two?
Islet autoantibodies
Insulin levels not useful, may be low due to glucose
toxicity
DNA diagnostic testing if you are considering MODY,
in scenario of dominant inheritance pattern without
signs of insulin resistance
![Page 17: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/17.jpg)
Case Blood glucose is 24.9 mmol/L, blood gas is normal
Clinical suspicion is type 2
At this point in time, does it really matter?
Breaking the news
Management
![Page 18: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/18.jpg)
Management Interdisciplinary healthcare team
Lifestyle
Psychological issues
Insulin: required in severe metabolic
decompensation at diagnosis, including an A1C >
9.0% or symptoms of hyperglycemia
![Page 19: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/19.jpg)
Case Blood gas reveals a pH of 7.25 and a bicarbonate of
9
How many of you are certain this is type 1 diabetes?
How many of you are certain this is type 2 diabetes?
![Page 20: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/20.jpg)
DKA in type 2 DM The presence of DKA does not rule out the
possibility of type 2 diabetes
As in adults, children with type 2 diabetes can also
have HHS
High morbidity and mortality in youth with combined
DKA and HHS at time of diagnosis of type 2 diabetes
Judicious use of fluids and insulin
![Page 21: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/21.jpg)
Management In type 2 diabetes, insulin may be successfully
weaned once glycemic targets are achieved
Limited data on safety and efficacy of oral
antihyperglycemic agents in peds
Metformin- safe in adolescents up to 16 weeks
![Page 22: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/22.jpg)
Could this have been
prevented? Higher index of suspicion
Earlier screening for type 2
Fasting plasma glucose is the recommended
screening test
OGTT
![Page 23: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/23.jpg)
Consensus Pubertal children should be screened q2yrs using a FPG
if they have > 2 of the following (nonpubertal > 3)
Obesity
High-risk ethnic group and/or family history and/or exposure to
diabetes in utero
Signs or symptoms of insulin resistance
IGT
Use of antipsychotic meds
Very obese children should be screened annually with an
OGTT (BMI > 99th percentile)
![Page 24: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/24.jpg)
Case 12 year-old girl
Past medical history unremarkable
Obese
Hispanic origin
Mother has type 2 diabetes
OGTT
![Page 25: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/25.jpg)
Diagnosis Glucose intolerance
Fasting BG 6.1-6.9 mmol/L
2-hr BG 7.8-11.0 mmol/L
Diabetes
Fasting BG > 7.0 mmol/L
2-hr BG > 11.1 mmol/L
Insulin resistance when insulin > 500 pmol/L
![Page 26: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/26.jpg)
Case Fasting BG 6.2 mmol/L
2-hr BG 11.4 mmol/L
![Page 27: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/27.jpg)
Management Blood glucose monitoring at home
ac and 2-hr pc blood glucose values
Lifestyle changes
Consider initiating metformin if A1C > 7.0%
![Page 28: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/28.jpg)
Complications &
Comorbidities Dyslipidemia
Hypertension
NAFLD
Nephropathy
Neuropathy
Retinopathy
PCOS
![Page 29: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/29.jpg)
Obesity
![Page 30: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/30.jpg)
CausesExogenous
Exogenous
Exogenous
Exogenous
Exogenous
Exogenous
Exogenous
Exogenous
Endocrine
![Page 31: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/31.jpg)
Endocrine causes of obesity Hypothyroidism
Cortisol excess
Growth hormone deficiency
Unifying feature is poor growth
![Page 32: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/32.jpg)
Cushing’s syndrome “Moon” facies
Striae
“Buffalo” hump
Hyperglycemia/hypertension
Exceedingly rare
Most common cause in pediatrics is iatrogenic
Dexamethasone suppression test
![Page 33: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/33.jpg)
Exogenous obesity Intake > output
Baby steps
3 goals
Close follow-up
Think of all associated morbidities
![Page 34: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/34.jpg)
Take-Home Points Type 1 and type 2 diabetes may present with
identical symptoms
Look at the whole clinical picture
Distinguishing between the two may not impact your management
Metabolic decompensation: INSULIN
OGTT is a screening tool for asymptomatic children at risk, not needed to diagnose a patient with symptoms
![Page 35: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/35.jpg)
Case 14 year old girl has a lipid profile done because of
recent weight gain and parental concern
Cholesterol total 5.4 mmol/L
LDL 3.86 mmol/L
HDL 0.91 mmol/L
TG 2.3 mmol/L
![Page 36: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/36.jpg)
When do we screen?
Should this girl have even been screened?
Universal screening
Targeted screening
![Page 37: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/37.jpg)
Universal Screening Screening everyone at a given point in time
9-11 years old, then q5 years
National Lipid Association
Complete case ascertainment
Very little evidence
Cost-effectiveness?
NOT advocated in the Canadian Cardiovascular
Society Position Statement
![Page 38: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/38.jpg)
Targeted Screening > 2 years old with any of the following:
One or both parents with high cholesterol or are on
lipid-lowering agents
Family history of premature ASCVD (men < 55 years
old, women < 65 years old)
Family history is unknown
Moderate to high risk for premature ASCVD
![Page 39: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/39.jpg)
High ASCVD risk Smokers
BMI > 97th percentile
HTN requiring Rx
DM type 1 or 2
Kawasaki with persistent aneurysm
Post heart transplant
Chronic renal disease
![Page 40: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/40.jpg)
Moderate ASCVD risk BMI 95-96th percentile
HTN no Rx
Kawasaki disease with regressed aneurysm
SLE
JIA
HIV
Nephrotic syndrome
![Page 41: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/41.jpg)
Back to our patient…
Was it reasonable to screen her?
Do you refer her now?
![Page 42: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/42.jpg)
Reasonable referral criteria
LDL > 3.4 mmol/L
HDL < 0.9 mmol/L
TG > 2.3 mmol/L
![Page 43: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/43.jpg)
Case
Cholesterol total 5.4 mmol/L
LDL 3.86 mmol/L
HDL 0.91 mmol/L
TG 2.3 mmol/L
![Page 44: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/44.jpg)
What do you want to know?
Family history
Diet
Activity
Reason for weight gain?
![Page 45: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/45.jpg)
Diet History What do you eat and drink in a typical day?
Be as specific as possible…
Examples
What kind of milk?
Do you put mayo on your sandwich?
What kind of bread?
How do you prepare food at home (baked, pan-fried, deep-fired…?)
Restaurants
Fried food
![Page 46: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/46.jpg)
Physical Examination
Weight, height and BMI
Weight
(Height)2
BP
Stigmata of hyperlipidemia
Signs of insulin resistance
![Page 47: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/47.jpg)
Management?
Cholesterol total 5.4 mmol/L
LDL 3.86 mmol/L
HDL 0.91 mmol/L
TG 2.3 mmol/L
![Page 48: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/48.jpg)
![Page 49: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/49.jpg)
Management
Focus on diet
Fats and simple concentrated sugars
Quantities
Exercise to increase the HDL
Motivational strategies
![Page 50: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/50.jpg)
Diet Keep it simple
Cut back, don’t cut out
The rule of the plate
![Page 51: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/51.jpg)
Setup for Success
3 goals
Food-related
Activity-related
Screen time related
Family affair
Calendar
Follow-up
![Page 52: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/52.jpg)
Anything else to consider?
Hypothyroidism
Screen with a TSH
Borderline TSH is not the cause of obesity nor
abnormal lipid profile
![Page 53: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/53.jpg)
Case 11 year old boy referred for the following:
Total cholesterol 5.98 mmol/L
LDL 3.01 mmol/L
HDL 2.42 mmol/L
TG 1.27 mmol/L
Does this patient need to be seen?
![Page 54: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/54.jpg)
Don’t forget…
Total cholesterol alone is not a reason to refer
High HDL is a good thing!
![Page 55: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/55.jpg)
Case 7 year old boy
Pediatrician was worried that patient’s weight is > 97th percentile
Ordered routine bloodwork
Cholesterol 9.3 mmol/L
What else do you want to know?
Is this obesity related?
![Page 56: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/56.jpg)
Causes of Hypercholesterolemia
Cholestasis
Hypothyroidism
Anorexia nervosa
Nephrosis
![Page 57: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/57.jpg)
Cholestasis
Extra- or intrahepatic obstruction of biliary flow
Abnormal lipoproteins in plasma
Planar and palmar xanthomas
Neuropathy
![Page 58: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/58.jpg)
Hypothyroidism
Decreased biliary excretion of cholesterol and bile acids
Cholesterol biosynthesis decreased
Number of LDL receptors decreased
![Page 59: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/59.jpg)
Anorexia Nervosa
40% of patients have elevated LDL
Decreased fecal excretion of bile acids and cholesterol
Normal levels restored with proper nutrition
![Page 60: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/60.jpg)
Nephrosis
Biphasic hyperlipoproteinemia
First, elevation in LDL
Increased VLDL production by liver
Catabolism of LDL may be impaired
Low metabolic rate?
![Page 61: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/61.jpg)
Primary Hypercholesterolemias
Familial hypercholesterolemia
Familial combined hyperlipidemia
LP(a) hyperlipoproteinemia
Familial ligand-defective apo-B
![Page 62: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/62.jpg)
Familial Hypercholesterolemia
AD
Heterozygotes 1/500
Selective increase in LDL
Defect in LDL receptors on cell membranes
Combined heterozygotes
Homozygous
![Page 63: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/63.jpg)
Causes of Hypercholesterolemia
Cholestasis
Hypothyroidism
Anorexia nervosa
Nephrosis
![Page 64: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/64.jpg)
Causes of Hypercholesterolemia
Cholestasis
Hypothyroidism
Anorexia nervosa
Nephrosis
![Page 65: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/65.jpg)
Primary Hypercholesterolemias
Familial hypercholesterolemia
Familial combined hyperlipidemia
LP(a) hyperlipoproteinemia
Familial ligand-defective apo-B
![Page 66: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/66.jpg)
Primary Hypercholesterolemias
Familial hypercholesterolemia
Familial combined hyperlipidemia
LP(a) hyperlipoproteinemia
Familial ligand-defective apo-B
![Page 67: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/67.jpg)
What do you want to know?
Family history
If unknown, screen the others!
Detailed PMHx
Symptoms and signs of hypothyrodism
Definite urgent referral
![Page 68: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/68.jpg)
Tendinous xanthomas
![Page 69: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/69.jpg)
Corneal arcus
![Page 70: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/70.jpg)
Familial Hypercholesterolemia
Step One diet
AHA
Less than 30% of calories from fat
Less than 10% of calories from saturated fat
Less than 300 mg of cholesterol daily
![Page 71: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/71.jpg)
Making it practical
![Page 72: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/72.jpg)
Making it practical
How many calories in a gram of fat?
9 calories per gram of fat
Fat grams x 9 = Fat calories
![Page 73: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/73.jpg)
Making it practical
![Page 74: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/74.jpg)
Medications?
After 6 months of lifestyle changes
LDL > 4.2 mmol/L with risk factors
LDL > 4.9 mmol/L without risk factors
![Page 75: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/75.jpg)
Bile acid sequestrants
Cholestyramine
Colestid
GI effects
Compliance
![Page 76: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/76.jpg)
Ezetimibe (Ezetrol)
FDA-approved as monotherapy in kids > 10 years
old
Studied in age 6-10 year olds
![Page 77: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/77.jpg)
Statins Most approved > 10 years old
Pravastatin approved > 8 years old
Practice is variable
Post-puberty
Follow liver enzymes and CK
1-2 months after Rx initiation
1-2 months after dose change
q 6 months
![Page 78: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/78.jpg)
What am I thinking...?
![Page 79: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/79.jpg)
Homozygous FH
1 in 1 million
Consider statins earlier
Referral for plasmapheresis
![Page 80: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/80.jpg)
Take-Home Points
Targeted screening - controversial
Is it primary or secondary?
Even when the cause is obvious, look closely at anything else that may contribute
In pediatrics, diet is key and is the first step
Meds are an option
![Page 81: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/81.jpg)
Reasonable referral criteria
LDL > 3.4 mmol/L
HDL < 0.9 mmol/L
TG > 2.3 mmol/L
![Page 82: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/82.jpg)
Common Causes Elevated LDL
CHAN
Elevated TG
Anything that causes insulin deficiency or resistance
Obesity-related dyslipidemia
Familial combined dyslipidemia
Familial hypercholesterolemia
![Page 83: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/83.jpg)
Rx High LDL – decrease the fats
High TG – decrease the sugars
Low HDL – increase exercise
Meds if
LDL > 4.2 mmol/L with other risk factors
LDL > 4.9 mmol/L without other risk factors
![Page 84: FAT or FICTION: Cases of Childhood Dyslipidemia · 2018. 11. 20. · LP(a) hyperlipoproteinemia ... Defect in LDL receptors on cell membranes Combined heterozygotes Homozygous. Causes](https://reader033.fdocuments.us/reader033/viewer/2022060813/6091c54c68d8427e741d78cf/html5/thumbnails/84.jpg)