Case Study & Dx - lipids Flashcards
Clinical vignettes, patient history, test results, diagnosis, differential diagnoses, and management. (17 cards)
Hx: 48-year-old man with a family history of MI in father and brother.
No significant lifestyle factors, but elevated triglycerides and cholesterol on routine screening.
Test Results:
Total cholesterol: 7.5 mmol/L
LDL: 4.0 mmol/L
Triglycerides: 3.2 mmol/L
HDL: 1.0 mmol/L (normal).
Dx: Familial Combined Hyperlipidaemia (FCHL) — a genetic disorder causing elevated LDL and triglycerides.
Differential Diagnoses:
Diabetic Dyslipidaemia: Elevated triglycerides, but usually with higher glucose and insulin resistance.
Hyperthyroidism: Typically causes lower lipids, so unlikely.
Nephrotic Syndrome: Proteinuria present, but no evidence here.
Mx: Statins for elevated LDL.
Fibrates for elevated triglycerides.
Hx: 35-year-old woman with recurrent abdominal pain.
No family history of hyperlipidaemia, but recent weight gain and high-fat diet.
Test Results:
Triglycerides: 18 mmol/L (severe elevation).
LDL: 3.5 mmol/L
HDL: 1.1 mmol/L (normal).
Liver function tests: Normal.
Dx: Familial Hypertriglyceridaemia — elevated triglycerides due to lipoprotein lipase (LPL) deficiency.
Differential Diagnoses:
Pancreatitis: Elevated triglycerides could explain abdominal pain.
Type 2 Diabetes: Would expect higher glucose levels.
Hypothyroidism: Can elevate cholesterol, but not triglycerides to this level.
Mx:
Fibrates (e.g., gemfibrozil) to reduce triglycerides.
Low-fat diet and weight management.
Hx: 42-year-old man with a family history of early cardiovascular disease (father died at 50).
No significant symptoms but referred for lipid profile due to family history.
Test Results:
Lp(a): 130 nmol/L (elevated).
Total cholesterol: 5.0 mmol/L
LDL: 3.0 mmol/L
Triglycerides: 1.5 mmol/L
Dx: Lipoprotein(a) Excess — genetically elevated Lp(a).
Differential Diagnoses:
Familial Hypercholesterolaemia: Elevated LDL, but no xanthomas and normal Lp(a).
Atherosclerosis: Would expect more prominent cardiovascular symptoms.
Nephrotic Syndrome: Would show proteinuria, which is absent here.
Mx: Statins for cardiovascular risk reduction (mainly to manage LDL).
No direct treatment for Lp(a), but PCSK9 inhibitors may lower Lp(a) slightly.
Hx: 50-year-old woman with ankle swelling, frothy urine, and fatigue.
History of type 2 diabetes for 10 years.
Test Results:
Proteinuria: 3.5g/day.
Albumin: 18 g/L (low).
Lipid profile:
Total cholesterol: 8.0 mmol/L
LDL: 4.5 mmol/L
Triglycerides: 3.2 mmol/L
Dx: Nephrotic Syndrome — likely secondary to diabetes.
Differential Diagnoses:
Diabetic Nephropathy: Most common cause in a diabetic patient with proteinuria.
Amyloidosis: Would require biopsy, less likely without systemic signs.
Minimal Change Disease: More common in children, but possible in adults.
Mx:
ACE inhibitors to reduce proteinuria.
Statins for lipid control.
Diuretics for oedema management.
Hx: 52-year-old woman presenting with fatigue, weight gain, and dry skin.
Complains of cold intolerance and constipation.
No significant family history of thyroid disease.
Test Results:
TSH: 12.5 mU/L (elevated)
Free T4: 7.0 pmol/L (low)
Total cholesterol: 7.6 mmol/L
LDL: 4.9 mmol/L
Triglycerides: 3.1 mmol/L
Dx: Primary Hypothyroidism causing secondary hyperlipidaemia due to reduced thyroid hormone affecting lipid metabolism.
Differential Diagnoses:
Hypopituitarism: Would expect low TSH and a different hormonal profile.
Nephrotic Syndrome: No proteinuria or signs of kidney disease.
Cholestasis: Would expect elevated liver enzymes, which are normal here.
Mx:
Thyroid hormone replacement (levothyroxine).
Statins if cholesterol remains elevated after thyroid treatment.
Hx:
45-year-old man with a family history of early heart disease.
Recently noticed fatty deposits on his elbows and knees.
No history of diabetes or alcohol use.
Test Results:
Total cholesterol: 7.2 mmol/L
LDL: 4.1 mmol/L
Triglycerides: 5.6 mmol/L
Apolipoprotein E genotype: E2/E2 (homozygous)
Dx:
Remnant Hyperlipoproteinaemia (Type III Hyperlipoproteinaemia) due to the ApoE2/E2 genotype, causing defective clearance of remnant lipoproteins.
Differential Diagnoses:
Familial Hypertriglyceridaemia: No history of pancreatitis or extreme triglyceride levels.
Nephrotic Syndrome: Proteinuria and kidney function tests are normal.
Diabetic Dyslipidaemia: Elevated glucose would be expected if diabetes was present.
Mx:
Fibrates (e.g., fenofibrate) to reduce triglycerides.
Omega-3 fatty acids (e.g., fish oil) to lower triglycerides.
Symptoms: 52-year-old woman
Fatigue, weight gain, and dry skin
Complains of cold intolerance and constipation
No significant family history of thyroid disease
Test Results:
Test Result Reference Range
TSH 12.5 mU/L 0.3 – 4.0
Free T4 7.0 pmol/L 10 – 23 pmol/L
Total Cholesterol 7.6 mmol/L < 4.0
LDL 4.9 mmol/L < 1.8
Triglycerides 3.1 mmol/L 0.4 – 1.7
Dx:
Primary Hypothyroidism causing secondary hyperlipidaemia due to reduced thyroid hormone affecting lipid metabolism.
Differential Diagnoses:
Hypopituitarism: Would expect low TSH and a different hormonal profile.
Nephrotic Syndrome: No proteinuria or signs of kidney disease.
Cholestasis: Would expect elevated liver enzymes, which are normal here.
Mx:
Thyroid hormone replacement (levothyroxine).
Statins if cholesterol remains elevated after thyroid treatment.
Sxs:
52-year-old woman
Fatigue, weight gain, and dry skin
Complains of cold intolerance and constipation
No significant family history of thyroid disease
Test Results:
Test Result Reference Range
TSH 12.5 mU/L 0.3 – 4.0
Free T4 7.0 pmol/L 10 – 23 pmol/L
Total Cholesterol 7.6 mmol/L < 4.0
LDL 4.9 mmol/L < 1.8
Triglycerides 3.1 mmol/L 0.4 – 1.7
Dx:
Primary Hypothyroidism causing secondary hyperlipidaemia due to reduced thyroid hormone affecting lipid metabolism.
Diff Dx:
Hypopituitarism: Would expect low TSH and a different hormonal profile.
Nephrotic Syndrome: No proteinuria or signs of kidney disease.
Cholestasis: Would expect elevated liver enzymes, which are normal here.
Mx:
Thyroid hormone replacement (levothyroxine).
Statins if cholesterol remains elevated after thyroid treatment.
Sxs:
45-year-old obese barman
Recurrent epigastric pain, duodenal ulcer on endoscopy
History of high alcohol intake
Blood pressure: 166/105 (hypertensive)
Turbid serum noticed during liver function test
Test Results:
Test Result Reference Range
Total Cholesterol 7.5 mmol/L < 4.0
HDL-cholesterol 1.1 mmol/L > 1.2
LDL-cholesterol N/A < 1.8
Non-HDL-cholesterol 6.4 mmol/L < 2.5
Triglyceride 8.4 mmol/L 0.4 – 1.7
Dx:
Secondary hypertriglyceridaemia due to chronic alcohol consumption and metabolic syndrome
Diff Dx:
Familial hypertriglyceridaemia: Consider if family history emerges.
Pancreatitis: Risk due to high triglycerides (>10 mmol/L).
Non-alcoholic fatty liver disease (NAFLD): Check for signs of liver damage.
Mx:
Immediate aim: Reduce triglycerides to lower pancreatitis risk
Lifestyle: Reduce alcohol, weight loss, exercise
Fibrates: Activate PPARα, increase LPL activity, reduce VLDL production
Statins: For cardiovascular risk after triglycerides are controlled
Front
Sxs:
38-year-old female
Shortness of breath, chest pain after exertion
Mild hypertension (150/95)
Exercise ECG suggests angina
Physical signs: Tendon xanthomata (Achilles), corneal arcus
Adopted, so family history is unknown
Test Results:
Test Result Reference Range
Total Cholesterol 12.1 mmol/L < 4.0
HDL-cholesterol 1.1 mmol/L > 1.2
LDL-cholesterol 10.4 mmol/L < 1.8
Triglyceride 1.5 mmol/L 0.4 – 1.7
Dx:
Heterozygous familial hypercholesterolaemia (HeFH) due to ApoB-100 mutation
Diff Dx:
Polygenic hypercholesterolaemia: Less severe, no xanthomata.
Secondary hyperlipidaemia (e.g., hypothyroidism, nephrotic syndrome): Less likely.
Non-alcoholic fatty liver disease (NAFLD): Could be considered in the differential if liver involvement is suspected.
Mx:
Statins: Inhibit HMG-CoA reductase, reduce cholesterol production, increase LDL receptor expression
Ezetimibe: Blocks cholesterol absorption
PCSK9 inhibitors: Inhibit LDL receptor degradation, increase clearance
Lifestyle: Low saturated fat, regular exercise
Family screening: Essential in FH
Sxs:
48-year-old female
Fatigue, thirst, frequent urination
Overweight (BMI 28)
Reddish bumps around elbows
No clear family history, but father had diabetes and abdominal pains
Test Results:
Test Result Reference Range
Total Cholesterol 3.6 mmol/L < 4.0
Non-HDL Cholesterol 2.4 mmol/L < 2.5
Triglyceride 7.1 mmol/L 0.4 – 1.7
Glucose (fasting) 7.0 mmol/L 2.8 – 6.0
HbA1c 55 mmol/mol < 48
Dx:
Type 2 Diabetes Mellitus with secondary hypertriglyceridaemia
Diff Dx:
Familial combined hyperlipidaemia: Consider if family history emerges.
Hypothyroidism: Can raise triglycerides; check TSH.
Pancreatitis risk: Triglycerides >10 mmol/L.
Mx:
Lifestyle: Weight loss, low-carb diet, physical activity
Metformin: Improves insulin sensitivity, reduces hepatic glucose output
Fibrates: First-line for triglyceride lowering, activate PPARα, increase LPL
Omega-3 fatty acids: Can help reduce triglycerides
Statins: Depending on cardiovascular risk, if needed
Hx: Recurrent pancreatitis, high triglycerides (TG >10 mmol/L), family history of hypertriglyceridaemia.
Test Results: Elevated triglycerides, normal cholesterol levels.
Dx: Familial Hypertriglyceridaemia
Diff Dx:
Secondary hypertriglyceridaemia (due to alcohol use or diabetes)
Lipoprotein lipase deficiency
Hypothyroidism
Hx: Central obesity, moon face, buffalo hump, hypertension, diabetes.
Test Results: Elevated cortisol, elevated triglycerides and cholesterol, suppressed ACTH (if adrenal cause).
Dx: Cushing’s Syndrome
Diff Dx:
Cushing’s disease (pituitary cause)
Ectopic ACTH syndrome
Alcoholic liver disease
Hx: Galactorrhoea, infertility, irregular periods in women; decreased libido, gynecomastia in men.
Test Results: Elevated prolactin levels
Dx: Hyperprolactinaemia
Diff Dx:
Prolactinoma
Hypothyroidism (TRH stimulates prolactin release)
Drug-induced (antipsychotics, metoclopramide)
History: Family history of cardiovascular disease, elevated cholesterol
Test results:
Elevated Lp(a) levels
Normal cholesterol and triglycerides
Dx: Lipoprotein(a) Excess
Diff Dx:
Familial hypercholesterolaemia
Secondary hyperlipidaemia
History: Fatigue, jaundice, history of alcohol use, abdominal pain
Test results:
Elevated cholesterol
Elevated liver enzymes
Normal triglycerides
Cholestatic liver disease
Hepatitis
Alcoholic liver disease
