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clinical cases lipid metabolism.pptx

The document presents clinical cases related to lipid metabolism disorders, detailing seven individual cases ranging from a child with hypotonia and metabolic irregularities to a man with chest pain indicative of myocardial infarction. It highlights various biochemical investigations such as lipid profiles, liver function tests, and glucose levels, identifying conditions like carnitine deficiency, acute fatty liver disease, familial hypercholesterolemia, and Niemann-Pick disease. Treatment recommendations, diagnoses, and underlying genetic factors are discussed, emphasizing the connection between lipid metabolism and complications such as diabetes, liver dysfunction, and cardiovascular diseases.

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Clinical cases Lipid metabolism DR.S.SETHUPATHY, M.D,PH.D
Case 1  An 8 year-old girl complained of hypotonia, skeletal muscle weakness, exercise intolerance. Hepatomegaly was present. She was investigated.  Hemoglobin- 12 .2 gm/dl ( 11.2 – 14.5 gm/dl)  Plasma glucose- (Random) - 52 mg/dl.  Urine ketone bodies negative  Serum lactate – 32 mg/dl ( 4.5 – 20 mg/dl)  Serum total CPK- 420 mcg/L (10 to 120 micrograms per liter (mcg/L)
 Lipid profile - Serum total cholesterol – 232 mg/dl (140-200 mg/dl)  Serum triglycerides – 174 mg/dl ( 50 -150 mg /dl)  Serum LDL - 149 mg/dl ( < 100 mg/dl)  Serum HDL 48 mg/dl ( 45 -60 mg/dl)  Histochemical investigation revealed abnormal accumulations of lipid between the myofibrils.  Serum bilirubin- 1.6 mg/dl (<1 mg/dl)  AST - 76 U/L ( <40 u/L)  ALT - 92 U/L ( < 40 U/L)  ALP - 122 U/L ( <40 - 150 U/L)
Either transport defect or oxidation defect  Lack of energy – lesser oxygen, Glucose, fatty acids  During fasting, beta-oxidation of fatty acids provides the necessary energy.  Carnitine is required in the transfer of long-chain fatty acids across the inner mitochondrial membrane for beta-oxidation.  When fatty acids cannot be utilized, glucose is consumed.  It results in Nonketotic hypoglycemia.  Glycolysis and OxPhos steadily operate and provides large amount of energy than glycolysis alone. As glucose rapidly undergoes glycolysis beyond the capacity of OxPhos, pyruvate accumulates which gets reduced to lactate causing lactic acidosis.  Serum carnitine - 6 μmol/L ( 28-60 μmol/L)- deficiency
Case 2 • A 24 year old, primigravida ( gestational age- 37 weeks)complained of nausea , vomiting and malaise. • On examination- Jaundiced , anemic • BP – 160-100 mm of Hg. • Investigations • Hb – 10.9 g/dl • RBC - 3.2 ( 4-6 millions /micro l) • WBC – 15400 (4500 – 11000 / micro l) • Platelet - 90000 ( 150000 – 450000 per micro l) • Plasma glucose – 55 mg/dl
 Serum bilirubin- 3.6 mg/dl (<1 mg/dl)  AST - 96 U/L ( <40 u/L)  ALT - 122 U/L ( < 40 U/L)  ALP - 172 U/L ( 40 – 150 U/L)  Clotting time 162 seconds (70 to 120 seconds)  Prothrombin time – 18 secs (10 -14 seconds)  PT-INR - 2.4 ( 1-1.5 )  Plasma ammonia - 52 (15 to 45 µ/dL )  Plasma fibrinogen - 162 (200 to 400 mg/dL)  HbsAg - negative
Liver biopsy  A liver biopsy can provide a definitive diagnosis but due to the increased chance of bleeding mostly not done in acute fatty liver of pregnancy  Other causes of liver dysfunction- viral hepatitis, drug-induced liver dysfunction, and acetaminophen poisoning, Reye’s syndrome, pre-eclampsia, HELLP syndrome,intrahepatic cholestasis of pregnancy, autoimmune hepatitis should be ruled out.
 An accumulation of medium and long chain fatty acids occurs in the fetus. The unmetabolized fatty acids will re-enter the maternal circulation through the placenta, and overwhelm the beta-oxidation enzymes of the mother. It results in accumulation fat in the liver.  The gene responsible for LCHAD is isolated and the most common mutation found in acute fatty liver of pregnancy is the E474Q missense mutation.  Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is A.R in inheritance and mothers are often found to be heterozygous for the affected mutation.  Acute fatty liver of pregnancy
Case 3  A 62 year old man complained of passing foul smelling, bulky, frothy stools which floats for the past one month. He also complained of weight loss. No vomiting, no loss of appetite.  On examination - anemic, not jaundiced  Investigations  Hb – 10.9 g/dl  RBC - 3.2 ( 4-6 millions /micro l)  WBC – 8400 (4500 – 11000 / micro l)  Platelet - 175000 ( 150000 – 450000 per micro l)  Plasma glucose – 92 mg/dl
 Serum bilirubin- 0.9 mg/dl (<1 mg/dl)  AST - 32 U/L ( <40 u/L)  ALT - 12 U/L ( < 40 U/L)  ALP - 78 ( 40 -150 U/L)  Serum total proteins – 5.1 g/dl ( 6-8 gm/dl)  Albumin - 2.8 g/dl ( 3.5 -4.5 g/dl)  Fecal fat excretion - 48 g / three days ( 6 - 21 g /three days)  Serum calcium – 7.8 mg/dl ( 9-11 mg/dl )  Serum phosphorus - 3.1 mg/dl ( 3.5 – 4.5 mg/dl)  Serum alkaline phosphatase - 180 ( 40- 140 U/l )  25-hydroxy cholecalciterol - 24 (30 -50 ng/l)
Defective digestion or defective absorption  D-xylose absorption test – It is absorbed across the intestinal mucosa After a patient drinks the Xylose, urine or blood are collected over the next several hours.  Low Xylose levels in the blood or urine are highly suggestive of an abnormality of the intestinal mucosa.  Bentiromide test – Bentiromide chemical is given. This is broken down by pancreatic enzymes and (paraaminobenzoicacid, PABA) is released which is absorbed and excreted in the urine.  Pancreatic insufficiency is suspected when urinary PABA levels are low.
Case 4  A recently diagnosed diabetic male patient came for regular check up and got investigated- Blood pressure - 140/96 mm of Hg  Plasma glucose ( Fasting) - 160 mg/dl  Plasma glucose ( Post prandial) - 280 mg/dl  Urine glucose – Post prandial – 3+  Spot Urine albumin Creatinine ratio - 25 ( less than 30 microg/mg – normal , 30 – 300 – microalbuminuria, > 300 micro g/mg – albuminuria)  HbA1c - 7.2 % (< 6 – normal, 6-6.4 prediabetes, > 6.5 – diabetes)
Lipid profile  Serum total cholesterol – 227 mg/dl (140-200 mg/dl)  Serum triglycerides – 184 mg/dl ( 50 -150 mg /dl)  Serum LDL - 114 mg/dl ( < 100 mg/dl)  Serum HDL 42 mg/dl ( 40 -60 mg/dl) Renal profile  Serum urea - 24 mg/dl ( 15-40 mg/dl)  Serum creatinine - 0.9 mg/dl ( 0.6 – 1.2 mg/dl)  Serum uric acid - 5.2 mg/dl ( 4- 7 mg/dl)
Serum electrolytes  Serum sodium - 138 (135-145 mmol/l)  Serum potassium - 4.1 (3.5- 5.0 mmol/l)  Serum chloride- 98 ( 96-106 mmol/l)  Serum bicarbonate - 24 ( 22-29 mmol/l)
Interpret the results Blood glucose – elevated - Both F&PP HbA1c - increased Uncontrolled diabetes Urine albumin creatinine ratio – normal No nephropathy Serum Total Cholesterol, TGL, LDL cholesterol elevated HDL cholesterol- normal Hypercholesterolemia
Treatment for hypercholesterolemia  Statin group of drugs - Atorvastatin, Rosuvastatin  Mechanism – HMG CoA reductase inhibition  Rate limiting enzyme of cholesterol biosynthesis – HMG CoA reductase How cholesterol causes atherosclerosis ?  It gets deposited in the blood vessel and causes plaque ( thickening) formation.
 Which cholesterol is bad?  LDL cholesterol is bad. Why?  because it carries cholesterol from liver to tissues and excess gets deposited in the blood vessels of tissues such as heart, brain, kidney, nerves, peripheral tissues.  What are the complications?  Causing nephropathy, neuropathy, retinopathy, coronary artery disease, cerebral atherosclerosis, peripheral arterial disease.
 Which cholesterol is good?  HDL cholesterol is good since it transports cholesterol from tissues to liver for excretion.  How to increase HDL?  Exercise improves HDL cholesterol.  How to proceed further in this case?  Revise antidiabetic treatment  Add statin drug if not started
Case 5  A 35 year old male came to skin OPD for the complaint of yellowish plaques over eyelids. No pain. No other lesions.
 Xanthelasma palpebrarum was suspected and the following investigations were done.  Physical examination- Height: 164 cm, weight: 66 kg, body mass index (BMI): 25.15 kg/m2. Blood pressure of 126/85 mmHg. Heart rate- 87 /min,  Not anemic, not jaundiced, no pedal edema
Complete blood count Hb – 14.2 g/dl ( 13.5 – 16 g/dl) RBC - 4. 6 ( 4-6 millions /micro l) WBC – 8600 (4500 – 11000 / micro l) Platelet - 220000 ( 150000 – 450000 per micro l)
Lipid profile  Serum total cholesterol – 225 mg/dl (140- 200 mg/dl)  Serum triglycerides – 132 mg/dl ( 50 -150 mg /dl)  Serum LDL - 152 mg/dl ( < 100 mg/dl)  Serum HDL 37 mg/dl ( 40 -60 mg/dl)  Apo B/ApoA1 ratio - 2.7 ( 0.22- 2.24)
Possibilities Diabetes mellitus Obstructive jaundice Renal failure Hypothyroididsm Familial hypercholesterolemia
 Plasma glucose- Fasting 86 mg/dl ( 70- 100 mg/dl)  Plasma glucose – Postprandial - 128 mg/dl ( < 140 mg/dl)  Serum bilirubin- 0.9 mg/dl (<1 mg/dl)  AST - 36 U/L ( <40 u/L)  ALT - 32 U/L ( < 40 U/L)  ALP - 81 U/L ( 40 -150 U/L)
Serum urea - 24 mg/dl ( 15-40 mg/dl) Serum creatinine - 0.9 mg/dl ( 0.6 – 1.2 mg/dl) Serum uric acid - 5.2 mg/dl ( 4- 7 mg/dl
Thyroid function tests TSH - 2.8 ( 0.2 – 5.0 mIU/l) T4 - 6.1 (5.0 – 12.0 microg /dl) T3 - 135( 80- 220 ng/dl)
Family history  History of early heart attacks in his family among his father and father’s brothers  Diagnosis Familial hypercholesterolemia
 What is the defect in familial hypercholesterolemia ?  Familial hypercholesterolemia is an Autosomal dominant genetic disorder. It is caused by a defect on chromosome 19.  LDL receptor deficiency results in the accumulation of LDL cholesterol leading to rapid progression of atherosclerotic process.  What are the complications?  Early heart attacks, stroke, Gangrene
Case 6  A 57 years old male complained of severe chest pain radiating to the left arm, sweating, shortness of breath for two hours.  He was immediately shifted to the emergency dept.  He was taken emergency ECG and blood investigations.  ECG findings  ST segment elevation in the inferior leads (II, III and aVF)  Reciprocal ST segment depression in the lateral and/or high lateral (I, aVL, V5 and V6)  Suggestive of myocardial infarction
Three types of heart attacks ST segment elevation myocardial infarction (STEMI) non-ST segment elevation myocardial infarction (NSTEMI) coronary spasm, or unstable angina.
ECG changes in MI
ST elevation and Depression
Blood investigations  Plasma glucose (Random) - 280 mg/dl  Blood urea – 22 mg/dl ( 15-40 mg/dl)  Troponin I – 5.2 ( < 0.04 ng/ml)  Troponin T - 6.5 ( < 0.04 ng/ml)  Creatine kinase MB( CK-MB)- 27 ( < 5 ng/ml)  Serum total cholesterol – 217 mg/dl (140-200 mg/dl)  Serum triglycerides – 165 mg/dl ( 50 -150 mg /dl)  Serum LDL - 145 mg/dl ( < 100 mg/dl)  Serum HDL 42 mg/dl ( 45 -60 mg/dl
Troponin T , I and CK-MB elevated ECG changes Typical chest pain Diagnosis Myocardial infarction
Case 7  A 1-year-old boy was referred to hospital due to abdominal distention and poor weight gain.  He was the first male offspring of consanguineous parents.  He had neurodevelopmental delay, hepatosplenomegaly, severe hypotonia, difficulty in breathing.  Ophthalmological examination revealed the presence of cherry-red spot in the macula.
Histochemistry of a dried blood spot for the acid sphingomyelinase level - 11 nmol/L per 24 h (normal value: 200– 2500 nmol/L per 24 h) Diagnosis- Niemann-Pick disease Deficiency in acid sphingomyelinase, a lysosomal enzyme. It results in an accumulation of sphingomyelin in lysosomes
It leads to cellular apoptosis and there will be hepatosplenomegaly, neurodegenerative disorder and failure to thrive. It has poor prognosis There is no specific treatment
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