Hemochromatosis is an autosomal-recessive disorder. Common presenting features include fatigue and arthralgias.
Fasting transferrin saturation is the phenotypic hallmark of the disorder, and diagnosis is confirmed by genetic testing.
The main goal of treatment is to avoid iron overload in early-stage disease and remove excess iron from body stores by phlebotomy in late-stage disease.
Complications may include cirrhosis, hepatocellular cancer, arthropathy, diabetes, and heart disease.
Hemochromatosis is a multisystem disorder of dysregulated dietary iron absorption and increased iron release from macrophages. Patients with advanced hemochromatosis may present with life-threatening complications that include cirrhosis, hepatocellular cancer, diabetes, and heart disease. The mutation associated with hemochromatosis is highly prevalent in white populations but the disorder has variable penetrance.
History and exam
Key diagnostic factors
- diabetes mellitus
- impotence in males
- loss of libido
- skin pigmentation
Other diagnostic factors
- congestive heart failure
- porphyria cutanea tarda
- middle age
- male sex
- white ancestry
- family history
- supplemental iron
1st investigations to order
- serum transferrin saturation
- serum ferritin
Investigations to consider
- HFE mutation analysis
- MRI liver
- liver biopsy
- fasting blood sugar
- testosterone, FSH, and LH assays
- bone densitometry
stage 0 disease
stage 1 disease
stage 2, 3, or 4 disease
Kyle E. Brown, MD, FAASLD
Professor of Internal Medicine
University of Iowa Carver College of Medicine
KEB declares that she has no competing interests.
Dr Kyle E. Brown would like to gratefully acknowledge Dr Rebecca Fischer Connor, the previous contributor to this topic. RFC declares that she has no competing interests.
Pierre Brissot, MD
Professor of Medicine and Chief of Liver Disease Department
University Hospital Pontchaillou
PB declares that he has no competing interests.
William E. Cayley, MD MDiv
Department of Family Medicine
University of Wisconsin
WEC declares that he has no competing interests.
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- ACG clinical guideline: hereditary hemochromatosis
- Diagnosis and therapy of genetic haemochromatosis (review and 2017 update)
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