lipid disorders without fredricksons classification Flashcards
Lipid disorders
dyslipidemia
Elevated lipoproteins in the blood particularly LDL and VLDL
Hyperlipoproteinemia
Low level of lipoproteins
Hypolipoproteinemia
3 types of Hyperlipproteinemia
Hypercholesterolemia
Hypertriglyceridemia
Combined hyperlipidemia
2 types of hyoplipoproteinemia
Hypoalphalipoproteinemia
Hypobetalipoproteinemia
Deposition of fats in the skin resulting to yellow patch or nodules
Palmar Xanthomas
Rare inherited disorder with severe low or total absence of HDL.
Tangier’s disease
Mutation in ABCA 1 gene which responsible for HDL production.
High risk of developing atherosclerosis and cardiovascular disease.
Tangier’s disease
Bassen-Kornzweig syndrome
Abetalipoproteinemia
Autosomal recessive, No VLDL,LDL or chylomicrons in the blood.
Abetalipoproteinemia
Deficiency of Apo B48 and B100 the result to impaired fat absorption in the intestine and inability of the liver to synthesize fats.
Abetalipoproteinemia
Mutation in microsomal triglycerides transfer protein (MTTP) gene responsible for production apo B-containing lipoproteins resulting to low or no VLDL, LDL or chylomicrons.
Abetalipoproteinemia
Patient may develops retinitis pigmentosa, acanthocytosis, spinocerebellar degeneration, low fat- soluble vitamins and steatorrhea.
Abetalipoproteinemia
Lipid storage diseases Also known as
lipidoses
Group of inherited metabolic disorders in which lipids are accumulated in cells and tissues.
Deficiency in enzyme responsible for metabolism of lipids.
Prolong accumulation of lipids causes permanent damage different tissues and organs.
lipidoses