What is the diagnosis for an autoimmune disorder presenting in early adulthood with liver dysfunction and frequent infections, suggestive of Immune System (IS) dysfunction?

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Differential Diagnosis for Autoimmune Disorder

Single Most Likely Diagnosis

  • Autoimmune Hepatitis (AIH): This condition is characterized by liver inflammation and damage caused by an autoimmune response. It often presents in early adulthood, and patients may experience frequent infections due to impaired immune function. Liver dysfunction is a hallmark of the disease.

Other Likely Diagnoses

  • Primary Biliary Cholangitis (PBC): An autoimmune disease that affects the bile ducts in the liver, leading to liver dysfunction. While it primarily affects middle-aged women, it can present in early adulthood. Patients with PBC may be more susceptible to infections.
  • Systemic Lupus Erythematosus (SLE): A systemic autoimmune disease that can affect multiple organs, including the liver. SLE can present with liver dysfunction and increased susceptibility to infections due to immune system dysregulation.
  • Rheumatoid Arthritis (RA): Although primarily an autoimmune disease affecting the joints, RA can also involve the liver and increase the risk of infections, especially in patients with more severe disease or those on immunosuppressive therapy.

Do Not Miss Diagnoses

  • Chronic Granulomatous Disease (CGD): A rare genetic disorder that affects the immune system's ability to kill certain bacteria and fungi, leading to recurrent infections. Liver dysfunction can occur due to granulomatous disease. Although rare, missing this diagnosis could be fatal due to the risk of severe, life-threatening infections.
  • HIV Infection: Early stages of HIV infection can present with nonspecific symptoms, including liver dysfunction and recurrent infections. It's crucial to consider HIV in the differential diagnosis due to its significant implications for treatment and prognosis.

Rare Diagnoses

  • Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED): A rare autoimmune disorder that can affect multiple endocrine glands and present with liver dysfunction and recurrent infections, particularly candidiasis.
  • Hyper-IgE Syndrome: A rare condition characterized by elevated IgE levels, recurrent skin and lung infections, and sometimes liver involvement. It's an important consideration in patients with a history of recurrent infections and liver dysfunction, although it is much less common than other diagnoses listed.

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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