Adam Shared "Dyslipidemias" - 5 Picmonics

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Dyslipidemias

Hyperchylomicronemia (Type I Familial Dyslipidemia)
INHERITANCE
Autosomal Recessive
PATHOGENESIS
Lipoprotein Lipase Deficiency (LPL)
Altered Apolipoprotein C-II (Apo C-II)
Lab Findings
Increased Chylomicrons
Increased Cholesterol
Increased Triglycerides
Symptoms/Findings
Pancreatitis
Hepatosplenomegaly
No Increased Risk for Atherosclerosis
Eruptive/Pruritic Xanthomas
Milky White Appearance of Blood When Drawn
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3 mins
IIa—Familial hypercholesterolemia
Autosomal dominant
Absent or defective LDL receptors
Increased LDL, cholesterol
Heterozygotes (1:500) have cholesterol ≈ 300mg/dL; homozygotes (very rare) have cholesterol ≈ 700+ mg/dL
Accelerated atherosclerosis (may have MI before age 20)
Tendon (Achilles) xanthomas
Corneal arcus
Defective ApoB-100
Xanthelasmas
Although other body parts have LDL recptors, 70% of LDL is cleared by the liver
IIb - Familial hypercholesterolemia
In addition to cholesterol and LDL increase, there is a VLDL increase
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III—Dysbetalipoproteinemia FA 17 90
Autosomal recessive
Defective ApoE3 and ApoE4
Increased Chylomicron/VLDL remnants
Premature atherosclerosis
Tuberoeruptive xanthomas
Xanthoma striatum palmare
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IV—Hypertriglyceridemia
Autosomal dominant
Hepatic overproduction of VLDL
Increased VLDL, TG
Hypertriglyceridemia (> 1000 mg/dL) can cause acute pancreatitis because the binding capacity of albumin becomes overwhelmed
Coronary disease
ApoA-V
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Abetalipoproteinemia
Autosomal recessive
Deficiency of apolipoprotein B-48 and B-100
Malabsorption due to defection chylomicron formation (B-48)
Absent plasma VLDL and LDL (B-100)
Low plasma triglyceride
Enterocytes contain clear or foamy cytoplasm
Microsomal transfer protein (MTP) is necessary for proper folding of proteins
Loss of function of MTP
Fat soluble vitamin deficiency particularly Vitamin E
Later manifestations: retinitis pigmentosa, spinocerebellar degeneration (vitamin E deficiency), progressive ataxia, acanthocytosis
Infants present with severe fat malabsorption, steatorrhea, failure to thrive
Treatment: restriction of long-chain fatty acids, large doses of oral vitamin E
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