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Differential Diagnosis for 20-year-old Female with Sudden Onset Severe Headache and RUQ Pain

  • Single Most Likely Diagnosis
    • Hepatic artery thrombosis or vasculopathy: Given the patient's history of Abdominal vascular compression syndrome and hEDS, which can affect vascular integrity and increase the risk of thrombotic events, a hepatic artery thrombosis or vasculopathy could explain the severe RUQ pain and elevated transaminases. The absence of fever, diarrhea, and urinary symptoms, along with normal CBC, UA, lipase, and negative drug/ETOH use, supports this consideration.
  • Other Likely Diagnoses
    • Mesenteric ischemia: Although the CTA was normal, mesenteric ischemia could still be a consideration, especially given the abdominal vascular compression syndrome. However, the lack of typical symptoms such as diarrhea or abdominal tenderness might make this less likely.
    • Budd-Chiari syndrome: This condition, characterized by hepatic vein thrombosis, could present with RUQ pain and elevated liver enzymes. The patient's hEDS increases her risk for thrombotic events, making this a plausible diagnosis despite the normal imaging studies.
  • Do Not Miss Diagnoses
    • Hepatic infarction: Although less common, hepatic infarction could occur due to various reasons including thrombosis or vasculopathy, especially in the context of hEDS and abdominal vascular compression syndrome. It's crucial to consider this diagnosis due to its potential severity and need for prompt intervention.
    • Aortic dissection: Given the patient's hEDS, there is an increased risk of aortic dissection, which could present with severe headache and abdominal pain. The absence of typical back pain or unequal pulses does not rule out this diagnosis, and it is critical to consider due to its high mortality rate.
  • Rare Diagnoses
    • Polyarteritis nodosa (PAN): A systemic vasculitis that could affect multiple organs, including the liver, and present with a wide range of symptoms. While rare, it's an important consideration in a patient with unexplained multi-system symptoms.
    • Ehlers-Danlos syndrome-related complications: Beyond the already considered vascular complications, other rare complications related to hEDS, such as spontaneous rupture of visceral organs, should be kept in mind, although they might not directly explain the current presentation.

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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