METABOLIC DISORDER OF CHOLESTEROL AND THEIR CLINICAL SIGNIFICANCE

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METABOLIC DISORDER OF CHOLESTEROL AND
THEIR CLINICAL SIGNIFICANCEBYKARTHIKA DEVI B
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INTRODUCTION

• Cholesterol is essential biological molecule.
• Precursor for the synthesis of the steroid
  hormones and bile acids.
• In mammals liver can synthesize cholesterol from
  simple precursors.
• Synthesis and utilization of cholesterol must be
  regulated.
• This regulation will prevent the accumulation and
  abnormal deposition of cholesterol with in the
  body.

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METABOLIC DISORDERS

• Hypercholesterolemia
• Hypocholesterolemia
• Atherosclerosis
• SLOS
• Familial hypercholesterolemia

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FAMILIAL HYPERCHOLESTEROLEMIA

• It is a genetic disorder caused by defect on
  chromosome 19.
• The body unable to remove LDL cholesterol from
  the blood.
• This results in high level of LDL in blood.
• It will cause heart disease at younger age.
• SYMPTOMS
• Xanthomas
• Xanthelasmas
• Chest pain

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DIAGNOSIS

• By physical examination (xanthomas, corneal
  arcus)
• Blood test
• high level of total cholesterol
• greater than 300mg/dL in adults
• greater than 250mg/dL in children
• high level of LDL cholesterol
• greater than 170-200mg/dL in children
• greater than 220mg/dL in adults
• Other test include
• study of cells (fibroblasts)
• genetic test

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• TREATMENT
• Life style changes
• should reduce saturated fat intake
• Medications
• Most preferable drugs include lovastatin,
  
• pravastatin.
• Others include fibrates, nicotinic acid.

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ATHEROSCLEROSIS

• Common disorder caused by hardening
• of arteries.
• Cholesterol and other substances build up in the
  walls of arteries forms plaques.
• This plaque will narrowing the arteries and
  inhibits the blood flow.
• This condition is known as ATHEROSCLEROSIS.

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• SYMPTOMS
• Chest pain
• Shortness of breath
• Problems in intestine, kidney, brain.
• DIAGNOSIS
• Doppler test using ultra sound or waves
• Magnetic resonance arteriography(special type MRI
  scan)
• CT angiography
• Arteriogram

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• TREATMENT
• By changing life style
• Avoid fatty foods
• Quit smoking
• Exercise daily for 30 min
• Medication with antiplatelet drugs such as
  aspirin, clopidogrel (plavix)

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SMITH-LEMLI-OPITZ SYNDROME

• SLOS is a metabolic disorder.
• Caused by a mutation in DHCR7 gene on
  chromosome11.
• This gene codes for an enzyme 7-dehydrocholesterol
  redutase.
• SLOS patients are unable to produce enough
  cholesterol to support normal growth
  development.

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HOW DO PEOPLE GET SLOS?
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• SYMPTOMS
• Mental retardation
• Poor growth
• Cleft palate( a split upper lip)
• Polydactyl
• Other symptoms at birth
• Microphaly (small head)
• Heart defects
• Hearing or sight loss

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• DIAGNOSIS
• An ultrasound can reveal the physical deformities
  before the baby is born.
• Amniocentesis chronic villus sampling can also
  be used.
• Blood test can also be used.
• TREATMENT
• There is no real treatment for SLOS.
• Cholesterol supplement can improve the children's
  growth development.
• Surgery necessary to correct physical deformities.

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CORONARY CIRCULATORY FUNTION IN PATIENTS WITH
METABOLIC SYNDROME
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INTRODUCTION

• The metabolic syndrome affects 25 of the
  population and the increase of diabetes and
  coronary artery disease (CAD). This article is
  about the analysis of the hypothesis that the
  Metabolic Syndrome Is Associated With the
  Impaired Coronary Vasodilator function, A marker
  of Atherosclerotic disease activity.

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MATERIALS AND METHODS

• Four hundred sixty-two patients at risk for CAD,
  as defined by a low-density lipoprotein
  cholesterolgt160mg/dL with fewer than two or more
  coronary risk factors.
• A low-density lipoproteingt130mg/dL with two or
  coronary risk factors or documented CAD were
  included.

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Cont

• A subset of 234 individuals underwent repeated
  PET at 1 y.
• Myocardial blood flow (MBF) and vasodilator
  reserve were assessed by PET.
• Modified criteria of the National Cholesterol
  Education Program, Adult Treatment Panel were
  used to characterize the metabolic syndrome.

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RESULTS

• Adenosine and cold-stimulated MBF were similar in
  patients with and without metabolic syndrome.
• Baseline MBF showed stepwise increase with
  increasing features of the syndrome.
• Consequently patients with metabolic syndrome
  showed a lower coronary flow rate (CFR) than
  those without metabolic syndrome.

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CONCLUSION

• This study demonstrates that in high-risk
  patients , the cluster of metabolic abnormalities
  present with the metabolic syndrome are
  associated with impaired coronary vasodilator
  reserve even in the absence of CAD.
• They found that the peak adenosine and
  cold-stimulated blood flows are impaired in
  patients with cardiovascular risk factors even in
  the absence of metabolic syndrome.

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REFERENCES

• Lehninger, Michael M Cox, David L Nelson,
  Principles Of Biochemistry,5th edition, Mc Graw
  Hill publications.
• http//www.ncbi.nlm.nih.gov/pubmed
  health/PMH0001224/
• http//www.ncbi.nlm.nih.gov/health/atherosclerosis
  /
• Marcelo F. Dicarli et al Coronary Circulatory
  Function In Patients with the Metabolic Syndrome,
  Journal Of Nuclear Medicine, volume 52,year 2011,
  i page no 1369.
• http//jnm.snmjournals.org/content/52/9/1369.full