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Snapshot
  • A 42-year-old woman with a history of polycystic ovarian syndrome and diabetes presents to her primary care physician's office for abdominal pain. She reports that she has experienced this for the past few months. On physical exam, her skin is noted to be hyperpigmented. She also has hepatomegaly. Given these findings, her physician sends her for laboratory testing, which shows elevated transaminases, iron, and ferritin. She is scheduled for regular phlebotomy.
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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(M1.GI.13.202) A 63-year-old woman enrolls in a research study evaluating the use of iron studies to screen for disease in a population of post-menopausal women. Per study protocol, past medical history and other identifying information is unknown. The patient's iron studies return as follows:

Serum iron: 200 µg/dL (normal 50–170 µg/dL)
TIBC: 220 µg/dL (normal 250–370 µg/dL)
Transferrin saturation: 91% (normal 15–50%)
Serum ferritin: 180 µg/L (normal 15-150 µg/L)
Erythrocyte protoporphyrin: 35 µg/dL (normal 16-65 µg/dL)

Which of the following is the most likely cause of these findings?
Tested Concept

QID: 106248
1

Chronic inflammation

15%

(8/53)

2

Excess iron absorption

77%

(41/53)

3

Iron deficiency

2%

(1/53)

4

Lead poisoning

4%

(2/53)

5

Pregnancy

0%

(0/53)

M 2 E

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