Case Presentation:
This is the complicated and unusual story of a 41-year-old white female and mother of two children with a prior history of hypertension. Over the span of 2 months, the patient’s family noticed increasing irritability as well as unusual behavior. This culminated in a one-week period during which the patient presented to the Emergency Department with bizarre and hysterical behavior on four different occasions, but refused voluntary admission to the psychiatric unit. Finally, on her fourth visit, the patient was admitted to a medicine floor for altered mental status. Her main complaints included tremors, vague abdominal pain, decreased appetite and insomnia. Notable findings included recent depression, weight loss, anxiety, acute bouts of hysteria, and various autonomic and neurovisceral derangements including persistently elevated and difficult to control blood pressure and tachycardia.
Within 24 hours of admission, the patient had an episode where she began acting irrationally, removing all her clothing and running naked down the hallway. She subsequently had a 2PC signed and was transferred to the psychiatric unit with 1:1 supervision. Over the next 3-4 weeks, treatment with anti-psychotics was attempted, which resulted in little improvement in her mental status and may actually have caused worsening of her symptoms. The patient often was noted to be confabulating and could maintain only very superficial and brief conversation. Extensive neurological workup remained negative other than EEG findings of global slowing consistent with a metabolic encephalopathic process.
Lab findings were significant for polycythemia, hyponatremia, and elevated transaminases. Urinalysis was positive for dark brown urine with persistently elevated urobilinogen. Subsequent testing for urine uroporphyrins was positive, which along with her unique constellation of signs and symptoms suggested a high likelihood of acute intermittent porphyria (AIP). She was immediately started on an IV D10 drip and a high carb diet and the transfer process to Mt Sinai for further evaluation and treatment of AIP was initiated.
Discussion:
This case highlights psychosis and odd behavior as one of the main presenting symptoms of acute intermittent porphyria. Porphyrias are caused by alterations in the enzymes involved in heme biosynthesis. Clinical manifestations of AIP are due to neurologic dysfunction, which may include a combination of sensory, motor, enteric and autonomic nervous system abnormalities. Detection of elevated urine porphobilinogen remains central to the diagnosis of AIP and is the only result needed to initiate treatment. IV hemin should be administered promptly, which often can rapidly resolve the acute attack within 4-5 days.
Conclusions:
Diagnosis of AIP requires a high degree of clinical suspicion, particularly if the patient develops vague abdominal symptoms with unexplained neurovisceral derangements. Our patient’s acute psychosis was due to acute intermittent porphyria, and was her main presenting symptom. This case highlights the importance of broadening the differential diagnosis of an acute psychotic break when workup for more common etiologies is unrevealing.