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Snapshot
  • A 50-year-old woman with a medical history of diabetes and alcoholism reports having increased shortness of breath with exertion. She has never had these symptoms before. On physical exam, she has hepatomegaly. Laboratory evaluation shows elevated liver enzymes and iron studies reveal increased ferritin and transferrin saturation level of 50%. An echocardiogram shows a mild dilated cardiomyopathy. She is scheduled for regular phlebotomy sessions.
Introduction
  • Clinical definition
    • hemochromatosis is a disease of iron accumulation, characterized by the classic triad
      • cirrhosis
      • diabetes mellitus
      • skin pigmentation
  • Epidemiology
    • demographics
      • age > 40
      • detected in men earlier than women
        • women lose iron through menstruation
    • etiology
      • hereditary hemochromatosis
      • secondary causes
        • repeated blood transfusions
  • Pathogenesis
    • ↑ intestinal absorption of iron, leading to iron overload
    • iron accumulation in organs cause end-organ damage
  • Genetics
    • autosomal recessive
    • HFE gene mutation on chromosome 6
      • C282Y mutation
      • H63D mutation
    • associated with HLA-A3
Presentation
  • Symptoms
    • cirrhosis
      • abdominal pain
      • hepatomegaly
      • jaundice
      • spider angioma
      • palmar erythema
    • diabetes mellitus
    • hyperpigmentation of skin
      • found in late-stage disease
      • "bronze diabetes"
    • arthropathy
      • calcium pyrophosphate deposition in metacarpophalangeal joints
    • hypogonadism
      • gynecomastia
      • lack of body hair
    • systemic symptoms
      • weakness
      • fatigue
    • heart failure
Studies
  • Diagnostic testing
    • imaging
      • magnetic resonance imaging (MRI) of the liver
        • to evaluate iron load
    • studies
      • liver biopsy
        • Prussian blue stain detects iron deposition in hepatocytes
      • ↑ liver enzymes
      • iron studies
        • ↑ transferrin saturation > 45%
        • ↑ ferritin
        • ↑ iron
        • ↓ TIBC
      • genetic testing for HFE mutation
        • confirms the diagnosis
  • Diagnostic criteria
    • based on clinical history and exam with ↑ transferrin saturation or ferritin
Differential
  • Nonalcoholic fatty liver disease (NAFLD)
    • distinguishing factor
      • increased ferritin levels are also found in NAFLD, but transferrin saturation levels are normal and imaging will not show increased iron deposition in the liver
  • Vibrio vulnificus infection
    • distinguishing factors
      • associated with hemochromatosis and bullous skin lesions
      • associated with exposure to seafood
Treatment
  • First-line
    • regular phlebotomy
      • indication
        • to maintain ferritin levels 50-100 mcg/L
    • iron chelation therapy
      • deferasirox
      • deferoxamine
      • deferiprone
  • Second-line
    • liver transplant
      • indication
        • decompensated cirrhosis
Complications
  • Hepatocellular carcinoma   
    • patients should undergo regular screening
  • Cardiomyopathy
    • dilated > restrictive
 

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Questions (5)
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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(M2.GI.4588) A 48-year-old man with a history of diabetes mellitus presents to his primary care physician with lethargy, joint pain, and impotence. Lab evaluation is notable for a ferritin of 1400 ug/L (nl <300 ug/L), increased total iron, increased transferrin saturation, and decreased total iron binding capacity. All of the following are true regarding this patient's condition EXCEPT: Review Topic

QID: 106999
1

It may lead to a decline in cardiac function

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2

It may improve with serial phlebotomy

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3

It may improve with calcium chelators

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(17/18)

4

It is associated with an increased risk for hepatocellular carcinoma

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5

It results in skin bronzing

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M2

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