Acute Intermittent Porphyria (AIP)

Presentation
30 to 40 year old patient has episodes of visceral autonomic dysfunction (typically results in abdominal pain), sensorimotor neuropathy (tingling, weakness), and psychiatric symptoms. Episodes can last anywhere from a few days to weeks. For example 40 year old with acute onset of psychosis (delusions, insomnia, irritability), abdominal pain, and peripheral neuropathy (tingling in hands/ feet). There is usually a family history of mental illness e.g. schizophrenia. On physical exam, the abdomen is soft and usually non-tender or only minimally tender, this is because the abdominal pain is neuropathic. Patients may also have constipation, vomiting, anxiety, and mood changes. The onset is usually when patients are in their 30s and 40s.

Pathology
Partial deficiency of prophobilinogen deaminase, which is required for heme synthesis.

Diagnosis
Elevated urinary porphobilinogen (dark red/ brown urine)

Management
Glucose in high doses can inhibit heme synthesis --> 5% glucose in normal saline infusion, 2L/24 for mild cases.
Hematin 4 mg/kg/d for 4 days for severe cases.

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