Test 2: Lipid Pathology Flashcards
HDL< 35mg/dl, rare primarily genetic
Hypo-α lipoproteinemia
What are the two types of Hypo-α lipoproteinemia?
✓ Tangier’s Disease (Apo A-I deficiency)
✓ LCAT Deficiency
1/10 of normal LDL, not associated with “coronary risk
Hypo-β lipoproteinemia
-increased catabolism of apo-AI and apoA-II
-decrease in HDL-C and apoA-1
-Cholesterol accumulation
Tangier Disease (homozygous)
What are symptoms of Tangier Disease (homozygous)?
-Hepatosplenomegaly
-Enlarged orange tonsils
-Peripheral neuropathy
-Pathologic accumulation of cholesterol
Macrophages
-reticulo-endothelial system
-Increased risk of premature atherosclerotic vascular disease
Tangier Disease (heterozygotes)
-less severe decrease in HDL-C and apoA-I levels (compared to homozygous)
Is there tonsillar enlargement and hepatosplenomegaly with heterozygous Tangier Disease?
NO
What are the two types of LCAT gene mutations?
-Complete mutation
Familial / homo (LCAT deficiency)
-Partial mutation
hetero (Fish eye disease)
What does LCAT deficiency cause?
-Proteinuria
-progressive renal
insufficiency
What does fish eye disease cause?
-increased catabolism of apo-A and apo-AII
-decreased HDL-C and apoA-I levels
-corneal arcus
-Premature
Atherosclerotic disease (rare)
What is the treatment for LCAT deficiency & Fish eye disease?
-Dietary fat restriction
-ACE inhibitors
-Dialysis
-Transplantation:
Kidney
Corneal
Free cholesterol, TG rich lipoprotein, and LDL is ____________ with LCAT deficiency & Fish eye disease
increased
How does LCAT deficiency & Fish eye disease present on electrophoresis?
discoidal pre-beta 1 (early phase HDL?) and alpha 4-containing HDL
LCAT deficiency & Fish eye disease:
HDL-C levels: ____ mg/dL
Lab data!!
ApoA-I levels ____ mg/dL
<10
20-30
Sphingomyelin Lipidoses:
Storage process deficit results in decreased _______ function
CNS
-Brain and other cells in CNS
an abnormality in sphingolipids storage
Sphingomyelin Lipidoses
Defects in degradation of glucocerebroside
Gaucher’s Disease
✓ Organ involvement is liver, spleen, brain
(Hepatosplenomegaly (Abdominal pain), decreased blood supply to the bone (skeletal abnormality), anemia)
Gaucher’s Disease
What is the enzyme missing with Gaucher’s Disease?
β-D-glucosidase
What is the enzyme missing in Neimann-Pick Disease?
sphingomyelinase
✓ Organ involvement: liver, spleen, brain
* Hepatosplenomegaly, lymphadenopathy, anemia, mental and physical disturbance
Neimann-Pick Disease
What is the enzyme missing in Tay-Sach’s Disease?
β-D-hexosaminidase A
-Organ involvement is brain**
-Inherited neurodegenerative disease **
Tay-Sach’s Disease
What is the order of severity in Tay-Sach’s Disease?
Infantile (deadly) > Juvenile> Late onset (Adult)
