Disorders of Lipid Digestion and Transport

Question 1

Digestive Defects

Answer 1

• pancreatic lipase deficiency
• cystic fibrosis

Question 2

Absorptive Defects

Answer 2

•bile acid deficiency

Question 3

Disorders of the Gallbladder and Extra Hepatic Bile Ducts

Answer 3

• Intestinal mucosal disease
• abetalipoproteinemia (Bassen-Kornzweig Syndrome)

Question 4

Lymphatic Pathology

Answer 4

•Whipple Disease

Question 5

HDL Formation Defect

Answer 5

•Tangeir’s Disease

Question 6

Hyperlipidemias

Answer 6

• Niemann Pick C
• Type I
• accumulation of chylomicrons
• familial hyperrchylomicronemia or primary hyperlipoproteinemia
• deficiency of lipoprotein lipase (LPL) deficiency or altered apolipoprotein CII, rendering it ineffective in activating LPL

•Type V

• increased production of VLDL
• endogenous hypertriglyceridemia

•Type II

• hypercholesterolemia
• Type IIa

*familial hypercholesterolemia

*LDL receptor deficiency

-Type IIb

*familial combined hypercholesterolemia (FCH)

*decreased LDL receptor and increased apoB

•Type III

• familial dysbetalipoproteinemia
• Abnormality of synthesis of apoE2, the ligand for the apoE-receptor, is characteristic of this disorde

•Type IV

-elevated production of VLDL (overproduction by liver) and decreased elimination