Acute Porphyria Presenting as Major Trauma: Case Report and Literature Review.
BACKGROUND
Acute porphyria is historically known as "the little imitator" in reference to its reputation as a notoriously difficult diagnosis. Variegate porphyria is one of the four acute porphyrias, and can present with both blistering cutaneous lesions and acute neurovisceral attacks involving abdominal pain, neuropsychiatric features, neuropathy, hyponatremia, and a vast array of other nonspecific clinical features.


METHODS
A 40-year-old man presented to the Emergency Department (ED) as a major trauma call, having been found in an "acutely confused state" surrounded by broken glass. Primary survey revealed: hypertension, tachycardia, abdominal pain, severe agitation, and confusion with an encephalopathy consistent with acute delirium, a Glasgow Coma Scale score of 13, and head-to-toe "burn-like" abrasions. Computed tomography was unremarkable, and blood tests demonstrated hyponatremia, acute kidney injury, and a neutrophilic leukocytosis. The next of kin eventually revealed a past medical history of variegate porphyria. The patient was experiencing an acute attack and received supportive management prior to transfer to intensive care, subsequently making a full recovery. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: This case highlights the importance of recognizing acute medical conditions in patients thought to be suffering from major trauma. Acute porphyria should be considered in any patient with abdominal pain in combination with neuropsychiatric features, motor neuropathy, or hyponatremia. Patients often present to the ED without any medical history, and accurate diagnosis can be essential in the acute setting to minimize morbidity and mortality. The label of the major trauma call must be taken with great caution, and a broad differential diagnosis must be maintained throughout a diligent and thorough primary survey.
School of Medical Education, King's College London, London, UK.
Joel
J
Norton
Department of Emergency Medicine, King's College Hospital NHS Foundation Trust, London, UK.
Christine
C
Hymers
Department of Haematological Medicine, King's College Hospital NHS Foundation Trust, London, UK.
Penelope
P
Stein
School of Medical Education, King's College London, London, UK.
Joanne May
JM
Jenkins
Department of Trauma and Emergency Surgery, King's College Hospital NHS Foundation Trust, London, UK.
Duncan
D
Bew
D015746:Abdominal Pain / Q000209:etiology; D000328:Adult; D019980:Amoxicillin-Potassium Clavulanate Combination / Q000494:pharmacology / Q000627:therapeutic use; D000900:Anti-Bacterial Agents / Q000494:pharmacology / Q000627:therapeutic use; D003937:Diagnosis, Differential; D004636:Emergency Service, Hospital / Q000458:organization & administration; D006801:Humans; D008297:Male; D046350:Porphyria, Variegate / Q000150:complications* / Q000503:physiopathology*; D012206:Rhabdomyolysis / Q000209:etiology / Q000503:physiopathology; D014839:Vomiting / Q000209:etiology; D014947:Wounds and Injuries / Q000175:diagnosis* / Q000503:physiopathology
D000900:Anti-Bacterial Agents; D019980:Amoxicillin-Potassium Clavulanate Combination
acute; major trauma call; medical crises; porphyria; trauma; variegata; variegate