What is the diagnosis for a patient presenting with hyperferritinemia, mild transaminitis (elevated liver enzymes), and jaundice?

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Differential Diagnosis for Elevated Ferritin, Mild Transaminitis, and Jaundice

Single Most Likely Diagnosis

  • Hemochromatosis: This genetic disorder leads to excessive iron absorption, resulting in elevated ferritin levels. It can cause liver damage, manifesting as mild transaminitis and jaundice due to iron overload.

Other Likely Diagnoses

  • Non-Alcoholic Fatty Liver Disease (NAFLD): Often associated with elevated ferritin levels due to inflammation and oxidative stress, NAFLD can lead to mild transaminitis. Jaundice may occur in more advanced stages, such as non-alcoholic steatohepatitis (NASH).
  • Viral Hepatitis: Certain viral hepatitis infections (e.g., hepatitis B and C) can cause elevated liver enzymes (transaminitis), jaundice, and sometimes elevated ferritin levels due to the body's inflammatory response.
  • Alcoholic Liver Disease: Similar to NAFLD, alcoholic liver disease can present with elevated ferritin, mild transaminitis, and jaundice, especially in the context of chronic alcohol consumption.

Do Not Miss Diagnoses

  • Wilson's Disease: A genetic disorder leading to copper accumulation in the liver, which can cause liver damage, elevated liver enzymes, and jaundice. Although ferritin might not be directly elevated due to copper overload, the condition's severity and potential for liver failure make it crucial not to miss.
  • Acute Liver Failure: Conditions like acetaminophen overdose or other toxins can lead to rapid liver failure, presenting with jaundice, elevated liver enzymes, and potentially elevated ferritin due to the release of intracellular contents.

Rare Diagnoses

  • Porphyria Cutanea Tarda: A disorder of porphyrin metabolism that can lead to elevated ferritin levels due to increased iron absorption and liver enzyme elevations. Jaundice may occur, although it is less common.
  • African Iron Overload: Similar to hemochromatosis but often related to dietary iron intake, this condition can cause elevated ferritin, liver damage, and potentially jaundice.
  • Transferrin Saturation Disorders: Rare genetic disorders affecting transferrin, the protein that binds and transports iron in the blood, can lead to elevated ferritin levels and potentially liver dysfunction.

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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