Lipid Disorders Flashcards by Khadija Meghrawi

List the 3 types of lipid disorders (3)

Familial hypertriglycerideaemia
Type 3 hyperlipidaemia
Hypertriglyceridaemia (primary/secondary)

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What is familial hypercholesterolaemia? (3)

Autosomal dominant
Raised cholesterol
Normal TG

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What mutations lead to familial hypercholesterolaemia? And what genes are affected? (3)

LDL receptor pathway mutations

LDLR
APB
PCSK9

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What are the signs of FH? And which is the most specific to FH?

Tendon xanthomata (most specific)
Xanthelasmata
Corneal arcus

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What is tendon xanthomata?

Swellings on knuckles, knees, Achiles tendon

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What is diagnostic for FH in adults? (3)

Cholesterol conc= above 7.5mmol
LDL = above 4.9mmol
Tendon xanthomas/in first/second degree relative

OR
- Positive genetic testing

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What is diagnostic for FH in children? (3)

Cholesterol conc= above 6.7mmol
LDL = above 4mmol
Tendon xanthomas/in first/second degree relative

OR
- Positive genetic testing

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What suggests possible FH? (3)

Cholestrol concs same as diagnostic FH
Family history of MI in younger than 50 yr 2nd degree relative/younger than 60 first degreee
Family history of raised cholesterol

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What level is the cut off for raised cholesterol in adults?

7.5mmol

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What level is the cut off for raised LDLs in adults?

4.9mmol

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What level is the cut off for raised cholesterol in children?

6.7mmol

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What level is the cut off for raised LDLs in children?

4mmol

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How is familial hypercholesterolaemia managed? (4)

Repeat LDL measurement to confirm
Cascade testing = family history
Start high intensity statin treatment
Diet and lifestyle advice

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What is the effects of statins on cholesterol synthesis? (2)

HMG CoA reductase is inhibited

- Increased LDL liver uptake

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What is HMG CoA reductase being inhibited by statins mean?

HmG CoA is not converted to mevalonate, one of the precursors of cholesterol

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What is type III hyperlipoproteinaemia? (4)

Autosomal recessive
Polymorphism of APOE2
Cholesterol increased
Triglycerides increased

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What are the symptoms of type III hyperlipoproteinaemia? (2)

Palmar xanthomata

- Eruptive xanthoama on elbow/knee points

What gene is linked to type III hyperlipoproteinaemia?

APOE2

Is hyperlipoproteinaemia responsive to diet/statins?

Yes

What are the 2 types of hypertriglyceridaemia?

Primary

- Secondary

List 2 examples of primary hypertriglyceridaemia

Familial combined hyperlipidaemia

- Polygenic hypertriglyceridaemia

List 3 examples of conditions causing secondary hypertriglyceridaemia

Uncontrolled diabetes
Hypothyroidism
Alcohol related liver disease

What is the upper reference range for triglycerides?

2.3 mmol/L

When taking a TG sample what condition does a patient need to be in compared to taking a cholesterol sample?

Patient = fasting in TG sample, not cholesterol

What are the symptoms of severe hypertriglyceridaemia?

- Eruptive xanthomata | - Lipaemia retinalis (white lines across retina)

What non cardiac problem is associated with hypertriglyceridaemia?

Acute pancreatitis

What puesdo condition is hypertriglyceridaemia associated with?

Psuedohyponatraemia

What is the management of hypertriglyceridaemia? (4)

- Drugs - Lose weight - Restrict saturated fats not carbs - Manage secondary causes e.g diabetes/thyroid functiion

What drugs are used in all types of hyperlipdaemia? (3)

- Statins - Ezetimibe - Bile acid sequestrant

What drug is used in familial hypercholesterolaemia to reduce LDLs?

Fibrates

What drug is used in homozygous familial hypercholesterolaemia only?

Apheresis

List the common statins used in the UK. What is the most common? (5)

- Atorvastatin (most common) - Simvastatin - Pravastatin - Fluvastatin - Rosuvastatin

What is the strongest type of statin used in the UK? Can it be given in primary care?

Rosuvastatin - can't be given in primary care

What are the most common side effects of statins? (3)

- Muscle pain - Myopathy - Rhabdomyolysis

What should be checked when giving statins and why?

- CK levels | - Could indicate rhabdomyolysis

At what upper limit of the reference range should statins be stopped? And what is the next step? (2)

If 10x | - If pain persists, investigate further

What is the effect of ezetimbe?

Decreases cholesterol absorption from gut by reducing exogenous pathway

How is ezetimbe used in treatment? (2)

- Not first line use | - In combo with statins for familial hypercholestrolaemia

How much of the population does familial hypercholesterolaemia affect?

1:500

What is puesdohyponatraemia?

measured sodium concentration is low, but the true physiological plasma sodium concentration is normal

How can hyperlipidaemia lead to puesdohyponatraemia? (4)

- More triglycerides in sample means less aqueous portion of sample - Sodium is in aqueous portion - Conc in aqueous portion is the same - Conc of sodium in total sample decreased

What are the next steps when a hyponatraemic result is found in a patient with hyperlipidaemia? (2)

- Check plasma osmolality of sodium is normal | - Contact biochem lab for blood gas sodium measurement