Hypolipoproteinemia

Hypolipoproteinemia

Q. 1

A patient with familial hypercholesterolemia undergoes a detailed serum lipid and lipoprotein analysis. Studies demonstrate elevated cholesterol in the form of increased LDL without elevation of other lipids. This patient’s hyperlipidemia is best classified as which of the following types?

 A

Type 1

 B

Type 2a

 C

Type 2b

 D

Type 3

Q. 1

A patient with familial hypercholesterolemia undergoes a detailed serum lipid and lipoprotein analysis. Studies demonstrate elevated cholesterol in the form of increased LDL without elevation of other lipids. This patient’s hyperlipidemia is best classified as which of the following types?

 A

Type 1

 B

Type 2a

 C

Type 2b

 D

Type 3

Ans. B

Explanation:

Hyperlipidemia has been subclassified based on the lipid and lipoprotein profiles.

Type 2a, which this patient has, can be seen in a hereditary form, known as familial hypercholesterolemia, and also in secondary, acquired forms related to nephritic syndrome and hyperthyroidism.

The root problem appears to be a deficiency of LDL receptors, which leads to a specific elevation of cholesterol in the form of increased LDL. Heterozygotes for the hereditary form generally develop cardiovascular disease from 30 to 50 years of age.

Homozygotes may have cardiovascular disease in childhood.

Type 1  is characterized by isolated elevation of chylomicrons.
 
Type 2b  is characterized by elevations of both cholesterol and triglycerides in the form of LDL and VLDL.
 
Type 3  is characterized by elevations of triglycerides and cholesterol in the form of chylomicron remnants and IDL.

Q. 2

All are features of Abetalipoproteinemia, EXCEPT:

 A

Plasma levels of cholesterol and triglyceride are extremely low

 B

Manifest in early childhood with diarrhea

 C

Progressive pigmented retinopathy seen

 D

Neurological manifestation as ataxia in first decade

Q. 2

All are features of Abetalipoproteinemia, EXCEPT:

 A

Plasma levels of cholesterol and triglyceride are extremely low

 B

Manifest in early childhood with diarrhea

 C

Progressive pigmented retinopathy seen

 D

Neurological manifestation as ataxia in first decade

Ans. D

Explanation:

Plasma levels of cholesterol and triglyceride are extremely low in this disorder, and chylomicrons. Abetalipoproteinemia usually presents in early childhood with diarrhea and failure to thrive.

The neurological manifestations like decreased distal lower extremity vibratory and proprioceptive sense, dysmetria, ataxia, and the development of a spastic gait, often by the third or fourth decade.

Patients also develop a progressive pigmented retinopathy presenting with decreased night and color vision.

Ref: Harrisons Principles of Internal Medicine, 18th Edition, Page 3153

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