A rare condition that mimics sepsis is presented where early recognition and prompt treatment precluded an invasive surgical procedure.
A 64 year-old male presented to our institution in an agitated delerious state. His family stated that he had been complaining of abdominal pain that began suddenly hours prior to admission. History revealed several admissions for abdominal pain and diarrhea that improved with bowel rest and opiates. A formal diagnosis had yet to be made. Imaging data and endoscopy were unremarkable. Past medical history included gastroesophageal reflux disease and borderline hypertension. Current medications were omeprazole and a multivitamin. He did not drink or use illicit drugs but continued to smoke 1 pack daily for 40 years. Family history included diabetes and coronary artery disease. He was a retired parts salesman. In the Emergency Department he required restraints secondary to his hysterical state. He was tachycardic and febrile with normal oxygen saturations and a mildly elevated systolic pressure. Physical examination revealed diffuse abdominal tenderness with guarding and rebound. The remainder of the exam was normal and there was no nystagmus, rash, or diaphoresis. Initial laboratory values included a normal arterial lactate, complete blood count, and metabolic panel. Lipase, Urinalysis, and spinal fluid analysis were also within normal limits. The Surgery team evaluated the patient and recommend treatment for abdominal sepsis with intensive care monitoring. CT scan of the head and abdomen were unremarkable but limited secondary to motion artifact. The patient was treated with intravenous fluids, antibiotics, and pain medications. Blood pressures remained mildly elevated. The following day he began to have diarrhea and the Gastroenterology team performed a colonoscopy which demonstrated a mildly erythematous ileal mucosa. Laboratory data including cultures remained unremarkable in spite of continued fevers on the second hospital day. Given the severe pain, delerium, and concern for sepsis with lack of a diagnosis the Surgery team decided to perform an exploratory laparotomy. Two hours prior to surgery the results of a 24 hour urine collection that was initiated upon admission revealed elevated levels of coproporphyrin I and III. A diagnosis of hereditary coproporphyria was made. Surgery was cancelled and the patient was started on intravenous hemin. The patient’s symptoms quickly resolved and he was discharged with instructions to avoid smoking and fasting which can aggravate his disease.
Following the diagnosis, the reason for the patient’s clinical presentation and abnormally normal laboratory values became clear. While early sepsis often involves changes in mental status this patient’s hysteria in the Emergency Department clued the Critical Care team into a possible diagnosis of porphyria. The normal arterial lactate and white blood cell count lended more support to this diagnosis however the importance of timely medical and surgical therapy for abdominal sepsis necessitated the patient’s treatment course. Porphyrias can be classified as those that present with neurologic disease such as acute intermittent porphyria and those that cause cutaneous manifestations like porphyria cutanea tarda. This patient had one of the rarest forms of porphyria, hereditary coproporphyria, which is an autosomal dominant disorder that presents in adulthood. It is clinically indistinguishable from acute intermittent porphyria and presents with neurovisceral symptoms. Fever, diarrhea, and tachycardia are often seen in association. A deficiency of coproporphyrinogen oxidase leads to accumulation of metabolic intermediates such as coproporphyrin that accumulate in tissues leading to the symptoms. Untreated cases can lead to significant morbidity and fatalities have been reported. Hemin treatment turns off the faulty biosynthetic heme pathways that lead to toxic metabolite accumulation. It is indicated for severe attacks.
Early recognition of porphyria as a sepsis masquerader can save more than unnecessary surgical interventions, it can save a life.
William Carlos, No Financial Disclosure Information; No Product/Research Disclosure Information