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Biochemistry

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Lipid

Question
19 out of 26
 

A young man on examination has found to increase serum cholesterol on further study, only LDL is increase in cholesterol, rest is normal. History of same in father. The likely diagnosis is: (AIIMS May 2009)



A Defect in the LDL receptor

B Type III hyperlipoproteinemia

C TYPE 1 hyperlipoproteinemia

D Type 4 hyperlipoproteinemia

Ans. A Defect in the LDL receptor Ref: Harrison 17th Edition, page 2419 table 350-3

Familial hypercholesterolemia -Defective LDL receptors or mutation -Elevated LDL levels and hypercholesterolemia,

(typeIIa) in ligand region of apo B-100. Resulting in atherosclerosis and coronary disease

Table : Frederickson Classification of Hyperlipoproteinemias

Phenotype

I

IIa

IIb

III

IV

V

Lipoprotein, elevated

Chylomicrons

LDL

LDL and VLDL

Chylomicron and VLDL remnants

VLDL

Chylomicrons and VLDL

Triglycerides

++++

--

++

++ to +++

++

++++

Cholesterol

+ to ++

+++

++ to +++

++ to +++

-- to +

++ to +++

LDL-cholesterol

HDL-cholesterol

+++

+

++

++

++

+++

Plasma appearance

Lactescent

Clear

Clear

Turbid

Turbid

Lactescent

Xanthomas

Eruptive

Tendon, tuberous

None

Palmar, tuberoeruptive

None

Eruptive

Pancreatitis

+++

0

0

0

0

+++

Coronary atherosclerosis

0

+++

+++

+++

+/–

+/–

Peripheral atherosclerosis

0

+

+

++

+/–

+/–

Molecular defects

LPL and apoC-II

LDL receptor, ApoB-100, PCSK9, ARH, ABCG5 and ABCG8

Unknown

ApoE

ApoA-V and Unknown

ApoA-V and Unknown

Genetic nomenclature

FCS

FH, FDB, ADH, ARH, sitosterolemia

FCHL

FDBL

FHTG

FHTG

Lipid Flashcard List

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