Differentials
Iron overload from chronic transfusion
SIGNS / SYMPTOMS
History of chronic transfusion and/or haematological disorder.
INVESTIGATIONS
Patients with iron overload from chronic transfusion are likely to be anaemic at the time of diagnosis; therefore, an FBC is recommended.
Hepatitis B
SIGNS / SYMPTOMS
History of or risk factors for hepatitis.
INVESTIGATIONS
Positive hepatitis B serology (HBsAg-positive) without homozygous HFE mutations.
Hepatitis C
SIGNS / SYMPTOMS
History of or risk factors for hepatitis.
INVESTIGATIONS
Positive hepatitis C serology (hepatitis C virus [HCV] antibody-positive) without homozygous HFE mutations.
Metabolic dysfunction-associated fatty liver disease (MAFLD)
SIGNS / SYMPTOMS
Common cause of elevated aminotransferases and/or hepatomegaly; often associated with features of the metabolic syndrome (obesity, hypertension, hyperlipidaemia, type 2 diabetes mellitus).
INVESTIGATIONS
Abdominal ultrasound may show an echogenic liver; ferritin may be elevated with a normal transferrin saturation; liver biopsy demonstrates features of MAFLD with or without excess iron.[50]
Dysmetabolic hyperferritinaemia
SIGNS / SYMPTOMS
Common syndrome with similar risk factor profile to MAFLD; high ferritin levels.
INVESTIGATIONS
Elevated serum ferritin with normal or low transferrin saturation; liver biopsy shows predominantly hepatocellular iron deposition with or without iron deposition in Kupffer cells. The original description excluded subjects with steatohepatitis; thus this condition appears to be distinct from MAFLD.[51]
Excessive iron supplementation
SIGNS / SYMPTOMS
History of excessive iron supplementation, especially with excessive vitamin C supplementation.
INVESTIGATIONS
Absence of homozygosity for HFE mutations.
Hereditary aceruloplasminaemia
SIGNS / SYMPTOMS
Very rare; familial. Can be associated with diabetes and often is associated with a neurological syndrome (extrapyramidal syndrome, cerebellar ataxia, retinal degeneration, and dementia).
INVESTIGATIONS
Marked elevation of the serum ferritin (without evidence of inflammation), but have low transferrin saturation. The diagnosis requires documentation of undetectable levels of serum ceruloplasmin.
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