Assoc Lipo

Question 1

FAMILIAL HYPOCHOLESTEROLEMIA

Answer 1

• autosomal dominant disorder due to LDL receptor

- CxF: xanthelasma and plana xanthomas

Question 2

FAMILIAL HYPOLIPIDEMIA

Answer 2

• also known as type 3 hypercholesterolemia
• accum of VLDL rich in chole and chylomicrons
• CxF: Santomas and pre-mature vascular disease
• Exogenous and endogenous pathway of lipoprotein metabolism

Question 3

ABETALIPOPROTEINEMIA

Answer 3

• also known as bassen-kornzweig syndrome
• apo-B defects
• VLDL, LDL and chylomicrons cannot be found in plasma
• autosomal reccesive disorder
• TAG and chole decreases
• defects on the fat soluble vitamins
• CxF: cereberal attack

Question 4

HYPOBETALIPOPROTEINEMIA

Answer 4

• abo-B defects

- dec VLDL, LDL, chole, TAG

Question 5

NIEMANN PICKS DISEASE

Answer 5

• lipids storage disease

- sphingomyeline in BSL

Question 6

TANGIER DISEASE

Answer 6

• rare autosomal recessive disorder
• absence of HDL due to ABC A1 on chromosome 9
• CxF: orange or yellowish discoloration in tonsils and pharnyx

Question 7

LIPOPROTEIN LIPASE DEFICIENCY (LPL)

Answer 7

• rare autosomal recessive disorder present in childhood

- chylomicrons not atherogenic

Question 8

LITHIUM CHOLESTEROL ACETYL TRANSFERASE DEFICIENCY (LCAT)

Answer 8

• mutation LCAT deficiency
• corneal, normochromic and renal failure
• fish eye DSE is milder than LCAT deficiency

Question 9

ANDERSON DISEASE OR CHYLOMICRONS RETENTION DISEASE

Answer 9

• synthesis distinct of abetalipoproteinemia
• apo-B 48
• CxF: fatmal absorption and low lvl of plasma
• hypocholesterolemia

Question 10

TAYSACH’S DISEASE

Answer 10

• neurodegenerative disorder

- sphingolipids and hexoaminidase A

Question 11

SISTOSTEROLEMIA

Answer 11

• deficiency in the ABCG8 or ABCG5 gene on chromosome 2P21

- absorbing plasma and periph tissues