Hemochromatosis Differential Diagnoses

Updated: Jun 08, 2023
  • Author: Andrea Duchini, MD; Chief Editor: Praveen K Roy, MD, MSc  more...
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Diagnostic Considerations

When evaluating a patient with suspected hemochromatosis, alcoholic liver disease, ineffective erythropoiesis with marrow hyperplasia, iron overload associated with chronic anemia, multiple transfusions, and porphyria cutanea tarda should also be considered. In addition, patients may have susceptibility to certain bacterial infections, such as Yersinia enterocolitica liver abscess, Y pseudotuberculosis sepsis, Vibrio vulnificus sepsis, and Listeria monocytogenes meningitis. [72] Also, take note of the increased risk of hepatoma in cirrhotic livers of patients with hemochromatosis.

Distinguishing hemochromatosis arthropathy from rheumatoid arthritis is important for several reasons. For example, patients with hereditary hemochromatosis do not require corticosteroid treatment. In addition, if a diagnosis of rheumatoid arthritis is made incorrectly, treatment with phlebotomy is not started early, and familial genetic counseling is not considered. [73]

Alcoholic liver disease

Patients with alcoholic disease include those who are heavy drinkers, perhaps of iron-containing fortified wines, who have cirrhosis. Liver biopsy in these patients may show a modest increase in iron; however, contrary to patients with hemochromatosis, the hepatic iron levels are relatively normal and iron stores are less than 4 g.

Ineffective erythropoiesis with marrow hyperplasia

Patients with hyperplastic erythroid marrow absorb an increased amount of iron to the point where they may have clinical iron overload. Examples include the hereditary sideroblastic anemias, severe alpha and beta thalassemia, and the myelodysplastic syndrome variants, such as refractory anemia with ringed sideroblasts (RARS).

Iron overload associated with chronic anemia

Patients who have iron overload due to chronic anemia have increased effective erythropoiesis and increased iron absorption. Examples include hereditary spherocytosis and acquired sideroblastic anemia.

Multiple transfusions

Hypertransfusion is performed in patients with beta thalassemia major, sickle cell anemia, refractory aplastic anemia, and myelodysplastic syndrome. Such patients may receive as many as 100 units of red blood cells, which contain as much as 20-25 g of iron, similar to or more than the amount retained in many symptomatic patients with hereditary hemochromatosis.

Porphyria cutanea tarda

Porphyria cutanea tarda is primarily a skin and liver disease that occurs in familial and sporadic forms. The cause of liver siderosis in sporadic porphyria cutanea tarda has not been established, but it may be related to a mutation in the HFE gene in most patients.

Differential Diagnoses