Updated: 1/20/2019

Lipoprotein Disorders

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Snapshot
  • A 12-year-old boy presents to the emergency department with chest pain after gym class. His parents note that he has been having increased episodes of difficulty catching his breath after exertion and has had previous episodes of chest pain on exertion. Upon physical exam yellow deposits are found on his heels and on his eyebrows. Based on clinical suspicion a LDL level is obtained and is found to be 480 mg/dL. He is referred to a geneticist for evaluation of deficiencies in LDL receptors and is prescribed a statin.
Hyperlipoproteinemia Overview
  • Type I hyperlipoproteinemia (hyperchylomicronemia)
    • pathophysiology
      • deficiency in lipoprotein lipase or apoC-II
        • results in ↑↑↑↑ TGs, chylomicrons
    • presentation
      • eruptive xanthomas
      • steatosis
      • abdominal pain post-fat ingestion
      • retinitis pigmentosa
  • Type II hyperlipoproteinemia 
    • pathophysiology
      • deficiency in LDL receptors
        • type IIa (familial hypercholesterolemia) results in ↑↑↑↑ LDL
          • >260 mg/dL
          • see Cholesterol topic
        • type IIb (familial combined hyperlipidemia) results in ↑↑↑↑ LDL, TGs, cholesterol
    • presentation 
      • deposition of cholesterol in normal tissue
        • xanthomas
        • xanthelasma
      • ↑↑ risk for coronary heart disease
  • Type III hyperlipoproteinemia (familial dysbetalipoproteinemia)
    • pathophysiology
      • deficiency in apolipoprotein E
        • remember: III lacks E
        • results in ↑↑↑ in remnants (chylomicron/ IDL)
          • apolipoprotein normally clears remnants (empties)
    • presentation
      • similar to type II hyperlipoproteinemia
      • ↑↑ risk for coronary heart disease
  • Type IV hyperlipoproteinemia (familial hypertriglyceridemia)
    • pathophysiology
      • ↓ removal or ↑ production of VLDL
        • results in ↑↑↑ in VLDL
      • presentation
        • pancreatitis
  • Type V hyperlipoproteinemia
    • type I + type IV
      • ↓ lipoprotein lipase + ↑ VLDL
      • remember: 1+4=5
  • Acquired hypercholesterolemia
    • obstructive jaundice
    • oral contraceptives
  • Acquired hypertriglyceridemia
    • alcoholism
    • renal failure
    • diabetes mellitus
  • Treatment for hyperlipoproteinemias
    • dietary modifications (type I)
    • statins (type II - IV)
    • niacin (type II, IV, V)
    • fibrates (type IIa, IV, V)
    • bile acid sequestrants (type IIa)
Hypolipoproteinemia Overview
  • Abetalipoproteinemia
    • AR
    • pathophysiology
      • due to mutations in the microsomal triglyceride transfer protein (MTTP)
      • deficiency in apolipoprotein B-48 and B-100
        • remember: A (without) beta (B)
      • ↓ chylomicrons (B-48), VLDL/LDL (B-100)
    • presentation
      • malabsorption of fat
        • can enter enterocytes but cannot exit because it cannot be packaged for release in lipoproteins
        • leads to histological appearance of fat droplets inside enterocytes
      • ↓ vitamin E absorption
      • ataxia
      • hemolytic anemia with acanthocytes
High Yield
  • Remember that type I, IIa, and IV are the most common types of hyperlipoproteinemia
  • I and IV present with pancreatitis, IIa presents with early symptoms of ACS
  • Treat all types other than I with statins, niacin, and fibrates
 

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Questions (2)
Lab Values
Blood, Plasma, Serum Reference Range
ALT 8-20 U/L
Amylase, serum 25-125 U/L
AST 8-20 U/L
Bilirubin, serum (adult) Total // Direct 0.1-1.0 mg/dL // 0.0-0.3 mg/dL
Calcium, serum (Ca2+) 8.4-10.2 mg/dL
Cholesterol, serum Rec: < 200 mg/dL
Cortisol, serum 0800 h: 5-23 μg/dL //1600 h:
3-15 μg/dL
2000 h: ≤ 50% of 0800 h
Creatine kinase, serum Male: 25-90 U/L
Female: 10-70 U/L
Creatinine, serum 0.6-1.2 mg/dL
Electrolytes, serum  
Sodium (Na+) 136-145 mEq/L
Chloride (Cl-) 95-105 mEq/L
Potassium (K+) 3.5-5.0 mEq/L
Bicarbonate (HCO3-) 22-28 mEq/L
Magnesium (Mg2+) 1.5-2.0 mEq/L
Estriol, total, serum (in pregnancy)  
24-28 wks // 32-36 wks 30-170 ng/mL // 60-280 ng/mL
28-32 wk // 36-40 wks 40-220 ng/mL // 80-350 ng/mL
Ferritin, serum Male: 15-200 ng/mL
Female: 12-150 ng/mL
Follicle-stimulating hormone, serum/plasma Male: 4-25 mIU/mL
Female: premenopause: 4-30 mIU/mL
midcycle peak: 10-90 mIU/mL
postmenopause: 40-250
pH 7.35-7.45
PCO2 33-45 mmHg
PO2 75-105 mmHg
Glucose, serum Fasting: 70-110 mg/dL
2-h postprandial:<120 mg/dL
Growth hormone - arginine stimulation Fasting: <5 ng/mL
Provocative stimuli: > 7ng/mL
Immunoglobulins, serum  
IgA 76-390 mg/dL
IgE 0-380 IU/mL
IgG 650-1500 mg/dL
IgM 40-345 mg/dL
Iron 50-170 μg/dL
Lactate dehydrogenase, serum 45-90 U/L
Luteinizing hormone, serum/plasma Male: 6-23 mIU/mL
Female: follicular phase: 5-30 mIU/mL
midcycle: 75-150 mIU/mL
postmenopause 30-200 mIU/mL
Osmolality, serum 275-295 mOsmol/kd H2O
Parathyroid hormone, serume, N-terminal 230-630 pg/mL
Phosphatase (alkaline), serum (p-NPP at 30° C) 20-70 U/L
Phosphorus (inorganic), serum 3.0-4.5 mg/dL
Prolactin, serum (hPRL) < 20 ng/mL
Proteins, serum  
Total (recumbent) 6.0-7.8 g/dL
Albumin 3.5-5.5 g/dL
Globulin 2.3-3.5 g/dL
Thyroid-stimulating hormone, serum or plasma .5-5.0 μU/mL
Thyroidal iodine (123I) uptake 8%-30% of administered dose/24h
Thyroxine (T4), serum 5-12 μg/dL
Triglycerides, serum 35-160 mg/dL
Triiodothyronine (T3), serum (RIA) 115-190 ng/dL
Triiodothyronine (T3) resin uptake 25%-35%
Urea nitrogen, serum 7-18 mg/dL
Uric acid, serum 3.0-8.2 mg/dL
Hematologic Reference Range
Bleeding time 2-7 minutes
Erythrocyte count Male: 4.3-5.9 million/mm3
Female: 3.5-5.5 million mm3
Erythrocyte sedimentation rate (Westergren) Male: 0-15 mm/h
Female: 0-20 mm/h
Hematocrit Male: 41%-53%
Female: 36%-46%
Hemoglobin A1c ≤ 6 %
Hemoglobin, blood Male: 13.5-17.5 g/dL
Female: 12.0-16.0 g/dL
Hemoglobin, plasma 1-4 mg/dL
Leukocyte count and differential  
Leukocyte count 4,500-11,000/mm3
Segmented neutrophils 54%-62%
Bands 3%-5%
Eosinophils 1%-3%
Basophils 0%-0.75%
Lymphocytes 25%-33%
Monocytes 3%-7%
Mean corpuscular hemoglobin 25.4-34.6 pg/cell
Mean corpuscular hemoglobin concentration 31%-36% Hb/cell
Mean corpuscular volume 80-100 μm3
Partial thromboplastin time (activated) 25-40 seconds
Platelet count 150,000-400,000/mm3
Prothrombin time 11-15 seconds
Reticulocyte count 0.5%-1.5% of red cells
Thrombin time < 2 seconds deviation from control
Volume  
Plasma Male: 25-43 mL/kg
Female: 28-45 mL/kg
Red cell Male: 20-36 mL/kg
Female: 19-31 mL/kg
Cerebrospinal Fluid Reference Range
Cell count 0-5/mm3
Chloride 118-132 mEq/L
Gamma globulin 3%-12% total proteins
Glucose 40-70 mg/dL
Pressure 70-180 mm H2O
Proteins, total < 40 mg/dL
Sweat Reference Range
Chloride 0-35 mmol/L
Urine  
Calcium 100-300 mg/24 h
Chloride Varies with intake
Creatinine clearance Male: 97-137 mL/min
Female: 88-128 mL/min
Estriol, total (in pregnancy)  
30 wks 6-18 mg/24 h
35 wks 9-28 mg/24 h
40 wks 13-42 mg/24 h
17-Hydroxycorticosteroids Male: 3.0-10.0 mg/24 h
Female: 2.0-8.0 mg/24 h
17-Ketosteroids, total Male: 8-20 mg/24 h
Female: 6-15 mg/24 h
Osmolality 50-1400 mOsmol/kg H2O
Oxalate 8-40 μg/mL
Potassium Varies with diet
Proteins, total < 150 mg/24 h
Sodium Varies with diet
Uric acid Varies with diet
Body Mass Index (BMI) Adult: 19-25 kg/m2
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