An 18 year old girl presents with severe generalized abdominal pain and vomiting. She is hysterical, appearing to hear voices, agitated, and almost delirious. The patient also notes nausea, constipation, urinary retention, dysuria, and proximal leg weakness. For the last few days, she has not eaten very much due to social stressors. Past medical history is significant for long-standing anxiety and hypertension. She has had one previous episode of a similar attack lasting for days and it was associated with a seizure. There seems to be some family history of this disease, though the patient cannot recall what it's called. On exam, she is hypertensive and tachycardic. Her skin looks normal. You make the diagnosis by urine testing.
Challenge: What is the diagnosis?
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The Acute Abdomen
This is acute intermittent porphyria (AIP), an autosomal dominant partial deficiency of porphobilinogen deaminase activity in heme synthesis. The clinical findings are diverse but often involve abdominal pain, GI complaints, abdominal distention, ileus, urinary symptoms, peripheral neuropathy, seizures, or psychiatric manifestations. Patients may be hypertensive between crises and have longstanding anxiety. Unlike other porphyrias, there are no cutaneous manifestations. Diagnosis is by detection of metabolites ALA and PBG in the urine.
Source: UpToDate.
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