PATHOPHYSIOLOGY OF HYPERLIPIDAEMIA

Question 1

STATE THE CLINICAL MANIFESTATIONS OF FAMILIAL HYPERTRIGLYCERIDAEMIA.

Answer 1

• ERUPTIVE XANTHOMA
• LIPAEMIA RETINALIS
• HEPATOSPLENOMEGALY
• SERUM APPEARS TURBID AT THE BOTTOM AND CREAMY AT THE TOP LAYER

Question 2

STATE THE INVESTIGATION FINDINGS IN FAMILIAL HYPERTRIGLYCERIDAEMIA.

Answer 2

• HIGH LEVEL OF TG
• LOW LEVEL OF HDL
• AVERAGE OR LOW LEVEL OF LDL
• IF THE TG IS MORE THAN 4.5, THEN THE LDL CANNOT BE CALCULATED.

Question 3

STATE THE COMPLICATIONS OF FAMILIAL HYPERTG.

Answer 3

• ACUTE PANCREARITIS
• INCREASED RISK OF CVS DISEASE

Question 4

STATE THE SERUM FINDING OF FAMILIAL HYPERCM.

Answer 4

CREAMY AT THE TOP LAYER

Question 5

FAMILIAL HYPERCM OCCUR D/T

Answer 5

DEFICIENCY OF THE ENZYME LPL
DEFICIENCY OF APO Cii

Question 6

FAMILIAL HYPERCM IS (DOMINANT/RECESSIVE) DISORDER

Answer 6

RECESSIVE

Question 7

STATE THE CLINICAL MANIFESTATION OF FAMILIAL HYPERCM.

Answer 7

• ERUPTIVE XANTHOMATA
• RECURRENT ABDOMINAL PAIN CAUSED BY PANCREARITIS
• LIPAEMIA RETINALIS

Question 8

TRUE/FALSE:
REGARDING FAMILIAL COMBINED HYPERLIPIDAEMIA:
A. IT IS AN AUTOSOMAL RECESSIVE DISORDER.
B. IT IS DUE TO THE HEPATIC OVERPRODUCTION OF APO B
C. PLASMA CHOLESTEROL OR TG OR BOTH MAY BE ELEVATED.
D. PRESENCE OF TENDON XANTHOMATA AS CLINICAL MANIFESTATION
E. A SECONDARY CAUSE OF HYPERLIPIDAEMIA.

Answer 8

A. FALSE (DOMINANT)
B. TRUE
C. TRUE
D. FALSE (NO PRESENT OF TENDON XANTHOMATAIN THE FAMILIAL COMBINED HYPERLIPIDAEMIA)
E. TRUE

Question 9

FAMILIAL HYPERALPHALIPOPROTEINEMIA IS DUE TO THE INCREASE IN ___.

Answer 9

HDL FRACTION

Question 10

SECONDARY HYPERLIPIDAEMIA IS ___(MORE/LESS) COMMON THAN PRIMARY HYPERLIPIDAEMIA.

Answer 10

MORE

Question 11

SECONDARY HYPERLIPIDAEMIA IS ___(MORE/LESS) COMMON THAN PRIMARY HYPERLIPIDAEMIA.

Answer 11

MORE

Question 12

HOW IS THE OBESITY LEAD TO SECONDARY HYPERLIPIDAEMIA?

Answer 12

• OBESITY HAS INCREASE IN ADIPOCYTE MASS AND DECREASED IN THE INSULIN SENSITIVITY WHICH CAN AFFECT THE LIPID METABOLISM.
• MORE FREE FA FROM THE ADIPOSE TISSUE WILL BE DELIVERED TO THE LIVER.
• THIS FA WILL BE REESTERIFIED IN HEPATOCYTES TO FORM TG WHICH ARE PACKAGED INTO VLDL FOR SECRETION INTO THE CIRCULATION
• THEREBY, THIS WILL LEAD TO EXCESSIVE HEPATIC VLDL PRODUCTION.
• HENCE, HIGH TG, LOW HDL AND VARIABLE/NORMAL LDL CAUSING THE SECONDARY HYPERLIPIDAEMIA.

Question 13

STATE THE PATHOGENESIS OF DM THAT RELATE WITH THE SECONDARY HYPERLIPIDAEMIA.

Answer 13

• INSULIN RESISTANCE A/W TYPE II DM.
• IT WILL CAUSE THE LPL ACTIVITY TO BE REDUCED.
• LPL IS USED TO DEGRADE THE TG INTO FREE FA AND GLYCEROLS
• SINCE THERE IS REDUCTION IN THE LPL ACTIVITY, THE CATABOLISM ACTIVITY OF THE CM AND VLDL WOULD BE REDUCED AS WELL.
• AS A RESULT, THERE WILL BE AN INCREASE IN THE RELEASE OF FREE FA FROM THE ADIPOSE TISSUE, FA SYNTHESIS IN THE LIVER AS WELL AS HEPATIC VLDL PRODUCTION.
• THEREBY, THERE WILLL BE AN ELEVATED LEVEL OF TG

Question 14

HYPOALBUMINEMIA WILL CAUSE (INCREASED/DECREASE) IN HEPATIC PROTEIN SYNTHESIS.

Answer 14

INCREASE

Question 15

HYPOALBUMINEMIA IN NEPHORTIC SYNDROME WILL CAUSE:

Answer 15

1. INCREASED HEPATIC PRODUCTION
2. DECREASED CLEARANCE OF VLDLS
3. INCREASED LDL PRODUCTION

Question 16

CHRONIC KIDNEY DISEASE WILL HAVE ACCUMULATION OF

Answer 16

• VLDL
• REMNANT OF LIPOPROTEIN IN THE CIRCULATION

Question 17

HOW THYROID DISORDERS LEAD TO SECONDARY HYPERLIPIDAEMIA?

Answer 17

• THYROID HORMONE INCREASE THE HEPATIC EXPRESSION OF THE LDL R.
• HYPOTHYROIDISM IS A/W HIGH LEVEL OF LDL
• IN A THYROID DISORDER, THERE WILL BE LACK OF LDL R.
• THERE WILL BE A REDUCTION IN HEPATIC LDL R FUNCTION IN A THYROID DISORDER PT.
• HENCE, THERE WILL BE A DELAT IN THE CLEARANCE OF LDL.
• THEREFORE, THE LDL LEVEL IN THE HYPOTHYROID PT IS ELEVATED, BUT IT IS LOW IN HYPERTHYROID PT.

Question 18

WHAT IS CHOLELITHIASIS?

Answer 18

CHOLILETHIASIS:
- A MAJOR PATHWAY BY WHICH CHOLESTEROL IS EXCRETED FROM THE BODY IS VIA SECRETION INTO THE BILE
- CHOLESTHASIS WILL BLOCKS THIS CRITICAL EXCRETORY PATHWAY RESULTING IN HIGH LDL LEVEL

Question 19

FH IS CHARACTERISED BY

Answer 19

ELEVATED LDL-C IN THE ABSENCE OF HYPERTG

Question 20

FH IS AUTOSOMAL

Answer 20

DOMINANT

Question 21

FH IS PRESENT FROM

Answer 21

EARLY CHILHOOD

Question 22

STATE THE CAUSES OF FH

Answer 22

MUTATION OF THE LDL-R
MUTATION OF THE APO-B
PCSK9 MUTATION

Question 23

STATE THE CHARACTERISTICS OF HOMOZYGOUS FH

Answer 23

• NO FUNCTIONAL RECEPTORS ARE PRESENT
• CAUSED BY MUTATION IN BOTH ALLELES
• PLASMA CHOLESTEROL CONC. USUALLY MORE THAN 15MMOL/L
• DEVELOPS CAD IN CHILDHOOD
• IF LEFT UNTREATED, RARELY SURVIVE TO ADULTHOOD

Question 24

STATE THE CHARACTERISTICS OF HETEROZYGOUS FH.

Answer 24

• TOTAL CHOLESTEROL: 7.5- 12 MMOL/L
• INHERITANCE OF ONE MUTANT LDL- R ALLELE
• HYPERCHOLESTEROLEMIA SINCE BIRTH
• DISEASE RECOGNITION: DURING ROUTINE SCREENING
• DEVELOP CAD 20 YRS EARLIER THAN GENERAL POPULATIONS
• MORE THAN HALF OF THOSE UNTREATED DIE BEFORE THE AGE OF 60 YRS

Question 25

CLINICAL MANIFESTATION OF FH

Answer 25

- TENDON XANTHOMATA - XANTHELASMA - CORNEAL ARCUS - SERUM: CLEAR - ATHEROSCLEROSIS

Question 26

MANAGEMENT OF FH

Answer 26

STATINS TO REDUCE RISK OF CHD SCREEN OTHER FAMILY MEMBERS FOR EARLY DETECTION

Question 27

FAMILIAL HYPERTG AUTOSOMAL

Answer 27

DOMINANT

Question 28

FAMILIAL HYPERTG IS CHARACTERISED BY

Answer 28

- HIGH TG W/O CLEAR CAUSE - AVERAGE BELOW LDL-C - LOW HDL-C - FAMILY H(X) OF HYPERTG

Question 29

FAMILIAL HYPERTG HAS - ___ HEPATIC SYNTHESIS OF ____ - EXCESS ____ IN THE PLASMA - NOT MANIFEST UNTIL ADULTHOOD

Answer 29

FAMILIAL HYPERTG HAS - HIGH HEPATIC SYNTHESIS OF VLDL - EXCESS VLDL IN THE PLASMA - NOT MANIFEST UNTIL ADULTHOOD

Question 30

THE SERUM APPEARANCE FOR HYPERTG

Answer 30

TURBID AT THE BOTTOM CREAMY AT THE TOP LAYER

Question 31

FAMILIAL COMBINED HYPERLIPIDAEMIA IS AUTOSOMAL

Answer 31

DOMINANT

Question 32

CAUSES OF FAMILIAL COMBINED HYPERLIPIDAEMIA

Answer 32

- HEPATIC OVERPRODUCTION OF APOB 1. INCREASED VLDL SECRETION 2. INCREASED PRODUCTION OF LDL FROM VLDL