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Biochemistry | Physician Assistant (PA) School Study Aid
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
- Pathophysiology
- 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
- Diagnosis
- Lipid-Laden Enterocytes
- Acanthocytes
- Decreased Cholesterol and LDL
- Treatment
- Vitamin E (Alpha-Tocopherol)
4 mins
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