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Biochemistry | Physician Assistant School Study Aid


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Lipid Metabolism Disorders
5 Picmonics to Learn | 16 mins

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Dysbetalipoproteinemia (Type III Familial Dyslipidemia)
INHERITANCE
Autosomal Recessive
PATHOGENESIS
Defective Apolipoprotein E (Apo E)
Lab Findings
Increased Chylomicrons
Increased VLDL
Symptoms/Findings
Premature atherosclerosis
Tuberoeruptive xanthomas
Palmar xanthomas
3 mins
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
3 mins
Hypertriglyceridemia (Type IV Familial Dyslipidemia)
INHERITANCE
Autosomal Dominant
pathogenesis
Hepatic Overproduction of VLDL
Related to Insulin Resistance
Lab Findings
Increased VLDL
Increased Triglycerides (> 1000 mg/dL)
Symptoms/Findings
Acute Pancreatitis
Eruptive Xanthomas
Increased Risk for Coronary Artery Disease (CAD)
Increased Risk of Peripheral Vascular Disease
3 mins
Familial Hypercholesterolemia (Type IIa Familial Dyslipidemia)
INHERITANCE
Autosomal Dominant
PATHOGENESIS
Defective or Absent LDL Receptors
Defective Apolipoprotein B-100 (ApoB-100)
Lab Findings
Increased LDL
Decreased HDL
Type IIb also has Increased VLDL
Symptoms/Findings
Accelerated Atherosclerosis
Achilles Tendon Xanthomas
Xanthelasma
Corneal Arcus
4 mins
Abetalipoproteinemia
Pathogenesis
Autosomal Recessive
Deficiency of Apolipoproteins B-48 and B-100
MTTP Gene Mutation
Clinical Features
Malabsorption
Steatorrhea
Failure to Thrive
Ataxia
Retinitis Pigmentosa
Spinocerebellar Degeneration
Diagnostic Workup
Lipid-Laden Enterocytes On Intestinal Biopsy
Acanthocytes
Decreased Plasma Choleserol and LDL Levels
Treatment
VItamin E (Alpha-Tocopherol)
3 mins

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