Hemochromatosis

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

Studies

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

Complications