LIPIDS DISEASES

Question 1

A portion of the heart stops beating because it
does not receive sufficient oxygen supply because
the artery is blocked caused by atherosclerosis

Answer 1

Myocardial infarction

Question 2

When cholesterol plaque is dislodged and went to
brain, it causes cerebral embolism (stroke)

Answer 2

cerebrovascular dse

Question 3

diseases associated with lipid
concentrations (abnormal concentration)

Answer 3

dyslipidemia

Question 4

• is used to describe individuals for whom the cause of hypercholesterolemia is likely multifactorial (Not limited to family; No known reason_
• Increased cholesterol in the blood
• Approximately 85% of the hypercholesterolemia in the
  population may fall into this category

Answer 4

POLYGENIC (NONFAMILIAL)
HYPERCHOLESTEROLEMIA

Question 5

• Caused by defective or deficient LDL-receptor gene on chromosome 19
• The resulting defective receptors cannot bind or clear LDL from the circulation = ↑TC and ↑LDL

Answer 5

TYPE 2a FAMILIAL HYPERCHOLESTEROLEMIA

Question 6

clinical findings in TYPE 2a FAMILIAL HYPERCHOLESTEROLEMIA

Answer 6

(+) Xanthelasma
(+) Planar (tendon) Xanthoma

Question 7

• Accumulation of plasma Beta-VLDL rich in cholesterol and chylomicron remnants
• Also associated with the presence of Apo E

Answer 7

FAMILIAL DYSBETALIPOPROTEINEMIA

Question 8

Lab result in FAMILIAL DYSBETALIPOPROTEINEMIA

Answer 8

• equal elevations of Cholesterol and TAG and
  presence of beta-VLDL

Question 9

• ## Is an extremely rare autosomal recessive disorder wherein phytosterols (plant sterols) from food diet are absorbed and accumulate in plasma and peripheral tissues

Answer 9

sitosterolemia

Question 10

cause of sitosterolemia

Answer 10

• disease results from mutations in the ABCG8 or
  ABCG5 gene, both of which are located at Chromosome
  2p21

Question 11

lab result in sitosterolemia

Answer 11

high serum LDL-C levels during childhood

Question 12

Treatment for sitosterolemia

Answer 12

restrict dietary phytosterol intake or medications
to limit sterol accumulation

Question 13

• Acanthocytes can be found
• “Bassen-Kornzweig Syndrome”
• Due to defective Apo B synthesis
• VLDL, LDL and CMs are all not found in plasma
• Associated with defects in absorption of Fat-soluble
  vitamins AEK
• Characterized by cerebellar ataxia, acanthocytosis, fat
  malabsorption

Answer 13

abetalipoproteinemia

Question 14

• Due to apo-B deficiency resulting from point mutation in apo-B
• Decreased: LDL-C and Total Cholesterol

Answer 14

HYPOBETALIPOPROTEINEMIA

Question 15

Is a rare autosomal recessive disorder characterized by
very low level of HDL due to a mutation in the ABCA1
gene on chromosome 9

Answer 15

TANGIER DISEASE

Question 16

• Results to inability to clear chylomicron particles, creating the classic type 1 chylomicronemia syndrome
• Present in childhood with abdominal pain and pancreatitis
• TAG = 10,000 mg/ or 113 mmol/L postprandial result

Answer 16

LIPOPROTEIN LIPASE (LPL) DEFICIENCY

Question 17

• High chylomicrons in circulation
• Apo B-48 appears to be infected
• Characterized by hypocholesterolemia, chronic diarrhea,
  failure to thrive and deficiency of fat-soluble vitamins (Vit E
  in particular)
• Findings: Fat malabsorption and low levels of plasma lipids

Answer 17

CHYLOMICRON RETENTION DISEASE (ANDERSON’S DISEASE)