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MLAB 2401: Clinical Chemistry Keri Brophy-Martinez

MLAB 2401: Clinical Chemistry Keri Brophy-Martinez. Lipids and Lipoprotein Disorders. Dyslipidemias. Disease associated with abnormal lipid concentrations Subdivided into two major categories Hyperlipoproteinemias Hypolipoproteinemias

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MLAB 2401: Clinical Chemistry Keri Brophy-Martinez

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  1. MLAB 2401: Clinical ChemistryKeri Brophy-Martinez Lipids and Lipoprotein Disorders

  2. Dyslipidemias • Disease associated with abnormal lipid concentrations • Subdivided into two major categories • Hyperlipoproteinemias • Hypolipoproteinemias • Usually due to Congestive Heart Disease (CHD) or arteriosclerosis • Acquired • Environmental/lifestyle imbalance • Congenital • Genetic abnormalities • Secondary • Due to other diseases

  3. Arteriosclerosis • Effects both men and women; however, women present later in life • Disease stems from the deposition of lipids in artery walls.

  4. Plaque Formation • Lipid deposition leads to fatty streaks in the subendothelial space. • As time goes on, these streaks can develop into plaques • Plaques are formed from the repeated cycle of cell injury and repair. LDL plays a central role in plaque formation • The vessel continues to narrow due to this cycle, which increases the pressure within the vessel • Once the plaque ruptures, the thrombus formed blocks blood flow and causes a myocardial infarction

  5. Hyperlipoproteinemia • Result of malfunctions in the synthesis, transport or catabolism of lipoproteins • Elevated lipoprotein levels • Divisions • Hypercholesterolemia • Hypertriglyceridemia • Combined hyperlipidemia: elevation of cholesterol and triglyceride

  6. Hypercholesterolemia • Linked to heart disease • Familial hypercholesterolemia (FH) • Genetic abnormality that predisposes people to high cholesterol levels, specifically LDL cholesterol • Make cholesterol normally but lack or are deficient in active LDL receptors, so LDL builds up in the circulation • Without the LDL receptors, LDL can not be bound and cholesterol can not be transferred into the cell

  7. Hypercholesterolemia • Clinical signs and Symptoms • Heart attacks occur at an early age (teenage years) • Patient exhibit xanthomas, which are cholesterol deposits under the skin • Cholesterol can range from 300-1000 mg/dL

  8. Hypertriglyceridemia • Imbalance between synthesis and clearance of VLDL in circulation • Deficiency of LDL or apo-C ( co-factor for LPL activity) • Chylomicrons can not be cleared and triglycerides remain high • Normal function is for LDL to hydrolyze triglycerides carried in the chylomicrons and VLDL to give cells energy

  9. Hypertriglyceridemia • Causes of: • Genetic Abnormalities • Familial hypertriglyceridemia • Secondary causes • Hormonal abnormalities in pancreas, adrenals, pituitary and of diabetes mellitis

  10. Hypertriglyceridemia • Influenced by many hormones • Insulin, glucagon, pituitary growth hormone, adrenocorticotropic hormone (ACTH), thyrotropin, epinephrine, norepinephrine • Hormones trigger lipase • Can cause acute and recurrent pancreatitis

  11. Hypertriglyceridemia • According to the National Cholesterol Education Program( NCEP) • Triglyceride

  12. Combined Hyperlipoproteinemia • Presence of elevated levels of serum cholesterol and triglycerides • Results from accumulation of cholesterol-rich VLDL and chylomicron remnants from defective catabolism • Risk factor for CHD • Primarily congenital

  13. Hypolipoproteinemia • Low levels of lipoproteins • Two forms • Hypoalphalipoproteinemia • Decrease in circulating HDL (< 40 mg/dL) • Lack of hypertriglyceridemia • Due to a genetic defect • Tangier Disease • Hypobetalipoproteinemia • Low levels of LDL cholesterol

  14. Abetalipoproteinemia • Absence of lipoproteins containing Apo-b • Includes: LDL and VLDL • Hallmarks • Difficulty in weight gain and growth • Fat absorption problems • RBC membrane defects • Usually effects infants

  15. References • Bishop, M., Fody, E., & Schoeff, l. (2010). Clinical Chemistry: Techniques, principles, Correlations. Baltimore: Wolters Kluwer Lippincott Williams & Wilkins. • http://www.nlm.nih.gov/medlineplus/ency/imagepages/1554.htm • Sunheimer, R., & Graves, L. (2010). Clinical Laboratory Chemistry. Upper Saddle River: Pearson .

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