1136 - Multi-system Effects of Delayed Porphyria Diagnosis

Case Diagnosis: Multi-system Effects of Delayed Porphyria Diagnosis

Case Description: A 17-year-old female with history of abdominal pain presented to the hospital due to severe abdominal pain, requiring continuous opioid medications. She underwent cholecystectomy but continued to suffer. She experienced a seizure like event, decompensated into respiratory arrest requiring CPR. She recovered and discharged home a week later. She continued to experience pain, rapidly progressive numbness, weakness, and inability to walk. She was hospitalized again, noted to have dysarthria, multiple electrolyte abnormalities, and evidence of end-organ damage. Initially, she was diagnosed with Functional Neurological Disorder. She was transferred to a higher level of care, where she underwent extensive lab work, MRI Brain (negative), and EEG (negative). She was transferred to a dedicated pediatric hospital, where she was immediately diagnosed with porphyria. She had notable respiratory insufficiency with acidosis, requiring tracheostomy and gastrostomy placement. She began treatment with Hemin, slowly recovered completely, and is now back to a normal life.

Discussions: Acute Intermittent Porphyria is a life-threatening, debilitating, but treatable condition that often eludes diagnosis. Symptoms can manifest in a variety of ways, making it critical to consider in patients that present with multisystem dysfunction. While some symptoms can include psychiatric disruptions, an underlying organic cause should not be discounted.

Conclusions: Individuals with porphyria are at increased risk for significant long-term effects if the diagnosis is delayed or missed entirely. Porphyria needs to be considered when patients exhibit a combination of polyneuropathy, psychological disturbances, hematuria and abdominal pain.