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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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(M2.GI.15.4588) 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:

QID: 106999
1

It may lead to a decline in cardiac function

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(0/20)

2

It may improve with serial phlebotomy

10%

(2/20)

3

It may improve with calcium chelators

85%

(17/20)

4

It is associated with an increased risk for hepatocellular carcinoma

0%

(0/20)

5

It results in skin bronzing

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M 5 E

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