Lipid Disorders (Dyslipidemia) (TOPIC 1) Flashcards
Elevated lipoproteins in the blood particularly LDL and VLDL
Hyperlipoproteinemia
Low level of lipoproteins
Hypolipoproteinemia
Hyperlipoproteinemia that is high in triglycerides
Hypertriglyceridemia
Hyperlipoproteinemia that is high in cholesterol
Hypercholesterolemia
Types of Hypolipopretinemia
Hypoalphalipoproteinemia
Hypobetalipoproteinemia
Causes of Lipid Disorders
Primiary/famiial
Secondary/acquired
due to genetic mutation, identified according to FREDRICKSON’S CLASSIFICATION.
Primary/familial
due to underlying diseases such as diabetes mellitus.
Diabetic dyslipidemia.
Secondary/ acquired
A condition in which arteries reduced its elasticity and become hardened.
Arteriosclerosis
a type arteriosclerosis due to plaque builds up in the lumen of arteries. Plaque is made up mostly of cholesterol.
Atherosclerosis
Impaired blood flow to the heart or brain due to plaque build up along the blood vessels as a result of atherosclerosis.
Coronary heart disease and Cerebrovascular disease
Risk factors are cigarette smoking, hypertension, family history, age, DM, obesity and sedentary life style, genetic mutation etc.
Coronary heart disease and Cerebrovascular disease
According to Frederickson Classification (primary cause)
Identify the Type I
Defect
Increased Lipoprotein
Increased Lipid
Associated Disease
LPL and apoCII deficiency
Chylomicrons
Triglycerides
Hypertriglycedemia , pancreatitis.
According to Frederickson Classification (primary cause)
Identify the Type IIa
Defect
Increased Lipoprotein
Increased Lipid
Associated Disease
LDL receptor deficiency
LDL
Cholesterol
Familial hypercholesterolemia, familial combined hyperlipidemia, hypothyroidism
Xanthomas
According to Frederickson Classification (primary cause)
Identify the Type IIb
Defect
Increased Lipoprotein
Increased Lipid
Associated Disease
LDL receptor deficiency,
Over production of VLDL by the liver
LDL and VLDL
Cholesterol and Triglycerides
Familial combined hyperlipidemia
According to Frederickson Classification (primary cause)
Identify the Type III
Defect
Increased Lipoprotein
Increased Lipid
Associated Disease
apoE deficiency
Chylomicrons and VLDL
Cholesterol and Triglycerides
Dysbetalipoproteinemia
According to Frederickson Classification (primary cause)
Identify the Type IV
Defect
Increased Lipoprotein
Increased Lipid
Associated Disease
Over production or impared catabolism of VLDL
VLDL
Triglycerides
Diabetes and acute pancreatitis (TG: >1000 mg/dl)
According to Frederickson Classification (primary cause)
Identify the Type V
Defect
Increased Lipoprotein
Increased Lipid
Associated Disease
Increased production of VLDL and Chylomicrons
Chylomicrons and VLDL
Triglycerides
Diabetes
Deposition of fats in the skin resulting to yellow patch or nodules
Palmar Xanthomas
Frederickson classification diagnostic use and interpretation
Type I
Triglycerides
Total Cholesterol
Serum Appearance
Severely Elevated
Normal to slightly elevated
Creamy layer over clear plasma
Frederickson classification diagnostic use and interpretation
Type IIa
Triglycerides
Total Cholesterol
Serum Appearance
Normal
Elevated
Clear
Frederickson classification diagnostic use and interpretation
Type IIb
Triglycerides
Total Cholesterol
Serum Appearance
Elevated
Elevated
Clear-slightly turbid
Frederickson classification diagnostic use and interpretation
Type III
Triglycerides
Total Cholesterol
Serum Appearance
Elevated
Elevated
Slightly turbid to turbid
Frederickson classification diagnostic use and interpretation
Type IV
Triglycerides
Total Cholesterol
Serum Appearance
Elevated
Normal to elevated
Clear, turbid or milky
Frederickson classification diagnostic use and interpretation
Type V
Triglycerides
Total Cholesterol
Serum Appearance
Severely elevated
Normal to elevated
Creamy layer over milky plasma
Determine the secondary causes
Diabetes mellitus Type 2
High TG and HDL
Determine the secondary causes
Obstructive liver disease
High cholesterol and Lpx
Determine the secondary causes
Nephrotic syndrome
High LDL
Determine the secondary causes
Hypothyroidism
High TG and Cholesterol
Determine the secondary causes
Chronic renal failure
high TG
Determine the secondary causes
Cigarette Smoking
lowers HDL
Determine the secondary causes
Obesity
High TG, cholesterol, LDL and low HDL
Determine the secondary causes
Drugs
Beta blockers
Retinoids
Antiretroviral drugs
Estrogen
Glucocorticoids
Rare inherited disorder with severe low or total absence of HDL.
Tangier’s disease
Mutation in ABCA 1 gene which responsible for HDL production.
Tangier’s disease
responsible for HDL production.
ABCA 1 gene
Tangiers disease what disorder
Severe low or total absence of HDL
Disease with High risk of developing atherosclerosis and cardiovascular disease.
Tangier’s disease
Abetalipoproteinemia aka
Bassen-Kornzweig syndrome
Autosomal recessive, No VLDL,LDL or chylomicrons in the blood.
Abetalipoproteinemia
result to impaired fat absorption in the intestine and inability of the liver to synthesize fats.
Deficiency of Apo B48 and B100
responsible for production apo B-containing lipoproteins resulting to low or no VLDL, LDL or chylomicrons.
Mutation in microsomal triglycerides transfer protein (MTTP) gene
Mutation in microsomal triglycerides transfer protein (MTTP) gene what disorder
low or no
VLDL, LDL, or chylomicrons
Abetalipoproteinemia what disorder
No vldl, ldl, or chylomicrons
If a patient have Abetalipoproteinemia what are the things that he can develop
Retinitis
Pigmentosa
Acanthocytosis
Spinocerebellar degeneration
Low fat-soluble vitamins
Steatorrhea
Also known as lipidoses
Lipid storage diseases
Group of inherited metabolic disorders in which lipids are accumulated in cells and tissues.
Lipid storage diseases or Lipidoses
Deficiency in enzyme responsible for metabolism of lipids.
Lipid storage diseases or Lipidoses
Prolong accumulation of lipids causes permanent damage different tissues and organs.
Lipid storage diseases or Lipidoses
Lipid Storage Diseases
Identigy the Tay-Sachs disease
Mutated Gene
Enzyme Deficiency
Characteristics
HEXA gene
Hexosaminidase A
Accumulation of gangliosides in the CNS
Lipid Storage Diseases
Identigy the Gaucher’s Disease
Mutated Gene
Enzyme Deficiency
Characteristics
GBA gene
B-glucocerebrosidase or
B-Glucosidase
Accumulation of glycolipids in the bone marrow, liver and spleen
Lipid Storage Diseases
Identigy the Niemann-Pick disease
Mutated Gene
Enzyme Deficiency
Characteristics
SMPD 1 gene
Sphingomyelinase
Accumulation of Sphingolipids in the liver and spleen. Thrombocytopenia
Lipid Storage Diseases
Identigy the Fabry’s disease
Mutated Gene
Enzyme Deficiency
Characteristics
GLA gene
A-galactosidase
Accumulation of globotriacylceramides (GB3 or GL-3) in different organs
Lipid Storage Diseases
Identigy the Krabbe’s disease
Mutated Gene
Enzyme Deficiency
Characteristics
GALC gene
B-galactosidase
Accumulation of galactolipids forming globoid cells. Impaiirs myelin formation
Lipid Storage Diseases
Identigy the Metachromatic leukodystropy
Mutated Gene
Enzyme Deficiency
Characteristics
ARSA
Arylsulfatase A
Accumulation of sulfatide in the nerve cells. Destruction of white matter (Leukodystropy)
