Differential Diagnosis

The patient's presentation of recurrent severe headaches followed by severe right upper quadrant (RUQ) abdominal pain and markedly elevated liver enzymes, with a history of endometriosis surgery, abdominal vascular compression syndrome, and other comorbidities, suggests a complex and multifactorial condition. The following differential diagnoses are considered:

• Single most likely diagnosis
  • Acute Intermittent Porphyria (AIP): The patient's symptoms of severe headache, abdominal pain, and elevated liver enzymes, particularly in the context of her menstrual cycle, are suggestive of AIP. The normal urine porphyrin spot screen may be misleading due to improper handling, and the lack of ALA and PBG testing makes this diagnosis still plausible.
• Other Likely diagnoses
  • Hepatic Artery Thrombosis or Vasculitis: Given the patient's history of abdominal vascular compression syndrome and recent stenting, hepatic artery thrombosis or vasculitis could be a possible cause of her symptoms.
  • Autoimmune Hepatitis (AIH): Although some AIH serologies were normal, the patient's presentation and elevated liver enzymes could still be consistent with AIH, particularly in the context of her other autoimmune conditions.
  • Mast Cell Activation Syndrome (MCAS) related liver dysfunction: The patient's known MCAS and history of severe headaches and abdominal pain could be contributing to her liver enzyme elevations.
• Do Not Miss (ddxs that may not be likely, but would be deadly if missed.)
  • Hepatic Vein Thrombosis: This condition could cause severe abdominal pain and elevated liver enzymes, and is a potentially life-threatening condition if not promptly diagnosed and treated.
  • Budd-Chiari Syndrome: This rare condition, caused by hepatic vein thrombosis, could also explain the patient's symptoms and is a medical emergency if not promptly addressed.
• Rare diagnoses
  • Ehlers-Danlos Syndrome related liver disease: The patient's known hEDS could potentially contribute to her liver disease, although this is a rare and less well-characterized condition.
  • Wilson's Disease: Although the patient's ceruloplasmin level was low, the normal 24-hour urine copper makes this diagnosis less likely, but it should still be considered in the differential diagnosis.

Further testing, including ALA and PBG levels, a properly handled urine porphyrin spot screen, and potentially a liver biopsy, would be necessary to confirm or rule out these diagnoses. Additionally, imaging studies such as a hepatic angiogram or MRI with contrast may be helpful in evaluating the patient's hepatic vasculature.