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. It's characterized by increased serum iron, ferritin, and transferrin saturation, often presenting with symptoms like fatigue, joint pain, and skin pigmentation changes.
Other Likely Diagnoses
- Transfusion-Related Iron Overload: Repeated blood transfusions can lead to iron accumulation, especially in patients with conditions like thalassemia major or sickle cell disease. The diagnosis is based on the history of frequent transfusions and elevated iron studies.
- Hemosiderosis: This condition involves the accumulation of hemosiderin in tissues, often due to repeated transfusions, chronic hemolysis, or excessive iron intake. It presents similarly to hemochromatosis but typically lacks the genetic component.
- African Iron Overload: Also known as Bantu siderosis, this condition is associated with increased iron absorption and storage, likely due to a combination of genetic predisposition and dietary factors (e.g., high iron intake from fermented beverages).
Do Not Miss Diagnoses
- Porphyria Cutanea Tarda: A disorder of porphyrin metabolism that can lead to iron overload. It presents with skin blistering, fragility, and hyperpigmentation, especially on sun-exposed areas. Missing this diagnosis could lead to significant morbidity due to untreated skin manifestations and potential liver damage.
- Aceruloplasminemia: A rare genetic disorder characterized by the absence of ceruloplasmin, leading to iron accumulation in the brain and other tissues. It presents with neurological symptoms, such as ataxia and dementia, making early diagnosis critical to prevent irreversible damage.
Rare Diagnoses
- Gracile Syndrome: A rare, autosomal recessive disorder causing iron overload due to mutations in the SLC39A14 gene. It's characterized by early-onset severe iron overload and distinct facial features.
- Atransferrinemia: A condition where transferrin, the main protein for iron transport in the blood, is absent or severely deficient. This leads to excessive iron deposition in tissues and can present with severe anemia, growth retardation, and increased risk of infections.
- Neonatal Hemochromatosis: A rare condition of iron overload presenting in the neonatal period, often with severe liver disease. The exact cause is unknown, but it's thought to involve maternal factors and an immune-mediated process.