Differential Diagnosis for Iron Overload
- Single Most Likely Diagnosis
- Hereditary Hemochromatosis: This is the most common cause of iron overload, an autosomal recessive disorder leading to excessive iron absorption from the gut, resulting in iron accumulation in various organs.
- Other Likely Diagnoses
- Transfusion-Related Iron Overload: Repeated blood transfusions can lead to iron overload, especially in patients with conditions like thalassemia major or sickle cell disease.
- Dietary Iron Overload: Although less common, excessive dietary iron intake, especially from supplements, can contribute to iron overload.
- African Iron Overload: A condition seen in sub-Saharan Africa, associated with increased iron absorption and possibly linked to genetic factors and dietary habits.
- Do Not Miss Diagnoses
- Porphyria Cutanea Tarda: A disorder of porphyrin metabolism that can lead to iron overload and skin manifestations; missing this diagnosis could lead to significant morbidity.
- Atransferrinemia: A rare genetic disorder characterized by the absence of transferrin, leading to severe iron overload; early diagnosis is crucial for management.
- Rare Diagnoses
- Aceruloplasminemia: A rare genetic disorder characterized by the absence of ceruloplasmin, leading to iron accumulation in the brain and other organs.
- Friedreich’s Ataxia: Although primarily a neurodegenerative disorder, some cases may present with iron overload due to mitochondrial dysfunction.
- Gracile Syndrome: A rare genetic disorder leading to iron overload and other systemic manifestations, often fatal in early childhood if not recognized and managed.