Hyperlipoproteinemia

Hyperlipoproteinemia

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. Type 5 is characterized by elevations of triglycerides and cholesterol in the form of VLDL and chylomicrons.


Q. 2

A young man presents to his physician’s office for a physical exam. He is concerned because his father died of a heart attack in his late 40’s. The physician finds that he has elevated serum cholesterol and LDL levels, but his VLDL and triglycerides are normal. Further investigation reveals an LDL receptor deficiency. This patient has which of the following types of hyperlipidemia?

 A

Type I

 B

Type IIa

 C

Type IIb

 D

Type III

Q. 2

A young man presents to his physician’s office for a physical exam. He is concerned because his father died of a heart attack in his late 40’s. The physician finds that he has elevated serum cholesterol and LDL levels, but his VLDL and triglycerides are normal. Further investigation reveals an LDL receptor deficiency. This patient has which of the following types of hyperlipidemia?

 A

Type I

 B

Type IIa

 C

Type IIb

 D

Type III

Ans. B

Explanation:

There are many clues in the question that should have guided you to this choice.
The laboratory findings are classic for Type IIa hyperlipidemia.
These patients have LDL receptor deficiencies and are at a great risk of advanced coronary atherosclerosis.
Since it is autosomal dominant, the patient’s father could have been affected as well.
 
Type I hyperlipidemia, or familial hyperchylomicronemia, is caused by a lipoprotein lipase deficiency. These patients have high serum triglycerides and normal cholesterol. They do not have a substantially higher risk of atherosclerosis.
 
Type IIb hyperlipidemia, or familial combined hyperlipidemia, presents as elevated serum LDL, VLDL, cholesterol, and triglycerides. These patients do have an increased incidence of atherosclerosis.
 
Type III hyperlipidemia, or familial dysbetalipoproteinemia, presents as increased serum cholesterol and triglycerides. The mode of inheritance is not understood, but apoprotein E is affected and the risk of atherosclerosis is great.
 
Ref: Botham K.M., Mayes P.A. (2011). Chapter 26. Cholesterol Synthesis, Transport, & Excretion. In D.A. Bender, K.M. Botham, P.A. Weil, P.J. Kennelly, R.K. Murray, V.W. Rodwell (Eds), Harper’s Illustrated Biochemistry, 29e.

Q. 3

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. 3

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.

Quiz In Between


Q. 4

A 7 year old boy presented with generalized edema.

Urine examination revealed marked albuminuria.

Serum biochemical examinations showed hypoalbuminaemia with hyperlipidemia.

Kidney biopsy was undertaken.

On light microscopic examination, the kidney appeared normal.

Electron microscopic examination is most likely to reveal

 A

Fusion of foot processes of the glomerular epithelial cells

 B

Rarefaction of glomerular basement membrane

 C

Deposition of electron dense material in the basement membrane

 D

Thin basement membrane

Q. 4

A 7 year old boy presented with generalized edema.

Urine examination revealed marked albuminuria.

Serum biochemical examinations showed hypoalbuminaemia with hyperlipidemia.

Kidney biopsy was undertaken.

On light microscopic examination, the kidney appeared normal.

Electron microscopic examination is most likely to reveal

 A

Fusion of foot processes of the glomerular epithelial cells

 B

Rarefaction of glomerular basement membrane

 C

Deposition of electron dense material in the basement membrane

 D

Thin basement membrane

Ans. A

Explanation:

Answer is A (Fusion of foot processes of the glomerular epithelial cells):

The presence of generalized edema is a 7 year old boy with proteinuria suggests a diagnosis of Nephrotic syndrome.

This child is likely to have.

Minimal change disease as this is the most common cause of Nephrotic syndrome in children and is associated with normal findings on Light microscopy

Generalized edema May develop Pleural effusion, pulmonary edema, ascitis Patients with minimal change disease characteristically show fusion of foot processes of the glomerular epethelial cells on electron microscopy.

Minimal change Disease: Review

  • Most common cause of Nephrotic syndrome in children (80% in children; 20% in adults)
  • Peak Age of onset is between 6-8 years of Age (usually < 10 years)
  • Type of onset : Insiduous

Clinical features

Peripheral Edema: Presenting Feature

Nephrotic syndrome is the typical presentation

Peripheral edema is the hallmark of Nephrotic syndrome occurring when serum albumin levels become less than 3g/dl

Initially dependent Edema  > Generalized edema May develop Pleural effusion, pulmonary edema, ascitis

  • Hematuria : 20-30%
  • Hypertension : V. Rare
  • Renal failure : Does not usually progress to renal failure

Laboratory (Features of Nephrotic syndrome)

  • Proteinuria
  • Hypoalbuminemia
  • Hyperlipidemia/Hyper cholesterolemia (Increased hepatic prduction of lipids)
  • Hypercoagulability

Renal pathology (Biopsy)

Investigation

  • Light microscopy Q
  • Electron microscopy Q
  • Immunofluorescence Q

Observation

  • No abnormality hence the term minimal change
  • Fusion of foot processes
  • Absence of immunoglobulin or complement

Prognosis

  • Prognosis is Good
  • Response to steroids is Excellent
  • Does not progress to Renal Failure

Treatments

  • Corticosteroids form the mainstay for treatment of MCD

 

 


Q. 5

Which can cause profound hyperlipidemia?

 A

Hypoparathyroidism

 B

Hypothyroidism

 C

Hyperparathyroidism

 D

Hyperthyroidism

Q. 5

Which can cause profound hyperlipidemia?

 A

Hypoparathyroidism

 B

Hypothyroidism

 C

Hyperparathyroidism

 D

Hyperthyroidism

Ans. B

Explanation:

Answer is B (Hypothroidism):

The two most common Endocrine causes of Secondary Dyslipidemia are Type-2 Diabetes Mellitus and Hypothyroidism.

Type-2 Diabetes Mellitus is the single most common endocrine cause of Secondary Dyslipidemia followed by Hypothyroidism.


Q. 6

Defect in type II hyperlipidemia

 A

Apo-E

 B

Lipoprotein lipase

 C

LDL receptor

 D

None

Q. 6

Defect in type II hyperlipidemia

 A

Apo-E

 B

Lipoprotein lipase

 C

LDL receptor

 D

None

Ans. C

Explanation:

 

Familial hypercholesterolemia (type Ha) is due to deficiency of functional LDL receptors as a result of different types of mutations.


Q. 7

Mechanism of action of fibrates in treatment of hyperlipidemia is ‑

 A

Activator of lipoprotein lipase

 B

PPAR alpha agonist

 C

Decreased synthesis of VLDL

 D

Inhibitor of CETP

Q. 7

Mechanism of action of fibrates in treatment of hyperlipidemia is ‑

 A

Activator of lipoprotein lipase

 B

PPAR alpha agonist

 C

Decreased synthesis of VLDL

 D

Inhibitor of CETP

Ans. A

Explanation:

Ans. is ‘a’ i.e., Activator of lipoprotein lipase

Quiz In Between



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