W.7a: Hypolipidemias and lipidosis Flashcards
Primary hypolipidemias are what kind of diseases?
Very rare hereditary diseases
4 Hypoalphalipoproteinemias
- An-alpha-lipoproteinemia (Tangier-disease)
- Familiar hypoalphalipoproteinemia
- Fish-eye disease
- Familiar LCAT-deficiency
What is missing in an-alpha-lipoproteinemia and what is characteristic for the disease?
- Apo A1 -> No HDL + ApoC1 and C2 level decreased
- Cholesterol precipitates into lymphatic nodules, orange color, liver, rectal mucosa
What is seen in familiar hypoalphalipoproteinemia?
- Se.HDL is decreased
- Has been associated with MI manifested in early age
Cause of fish-eye disease
Possibly caused by a posttranscriptional error of LCAT enzyme
Seen in familiar LCAT-deficiency
- No HDL
- Cataract
- Albuminuria
- Cholesterol-ester level is very low
Secondary hypoalphalipoproteinemias (6)
- Obesity
- Physical inactivity
- Type II DM
- Smoking
- Excess carb. intake (>60%)
- Drugs: beta blockers, anabolic steroids, thiazids, progestagens
What is missing in a-beta-lipoproteinemia (Bassen-Kornzweig disease) and what are the symptoms?
- Every ApoB containing lipoprotein are missing
- Neurological symptoms, retinitis pigmentosa, lipid absorption failure -> Vitamin E and A deficiency
Primary hypobetalipoproteinemias (2)
- A-beta-lipoproteinemia
- Familial hypobetalipoproteinemia
In familial hypobetalipoproteinemia there is a mutation in … which leads to..?
- Mutation of ApoB
- Leading to decreased Se.LDL (20-30% of normal value)
Secondary hypobetalipoproteinemias (6)
- Liver diseases
- Hyperthyroidism
- Digestive malnutrition
- Malignancy (eg. CML)
- Inflammatory disease (RA, SLE)
- Fever
What is lipidosis?
Lipid storage disease; any disorder of lipid metabolism involving abnormal accumulation of lipids in the reticuloendothelial cells
How do one get lipidosis?
It is genetically acquired
Examples of lipidosis (4)
- Tay Sachs disease
- Gaucher’s disease
- Niemann-Pick disease
- Fabry’s disease
Neurological complications of lipidosis (lots!)
May include ataxia, eye paralysis, clouding of the cornea, brain degeneration, seizures, learning problems, spasticity, feeding and swallowing difficulties, slurred speech, loss of muscle tone, hypersensitivity to touch, burning pain in the arms and legs
Prognosis of Gaucher disease
Children with this disease may live well into adulthood
Prognosis of Niemann-Pick disease
Children most often die young (from infection or progressive neurological loss)
Prognosis of Fabry disease
Children usually die by the age of 2, usually from lung disease
Prognosis of Tay-Sachs disease
Children often die by the age of 4 from recurring infections.
