Acute Intermittent Porphyria- how to cure?
A 27-year-old woman developed abdominal pain, nausea, and vomiting attributable to hyperemesis gravidarum as she was 7 weeks pregnant. She developed persistent hyponatremia, seizures, and behavioral symptoms and then, after a few weeks, progressive weakness and autonomic instability. She also had significant neuralgia. CSF studies were normal. Magnetic resonance imaging of the brain showed changes in keeping with reversible posterior leukoencephalopathy. Consecutive nerve conduction studies were normal, but needle assessment showed marked increased insertional activity and fibrillation potentials in the paraspinal, proximal, and distal muscles. Electrodiagnostic findings were in keeping with multilevel axonal polyradiculopathy. Expedited urine quantitative testing confirmed the diagnosis of AIP. She received heme and supportive therapy with resolution of weakness and seizures but had a spontaneous abortion.
@jaya The treatment goal for acute attacks of porphyria is to decrease heme synthesis and reduce the production of porphyrin precursors. High doses of glucose can inhibit heme synthesis and are useful for treatment of mild attacks. United Kingdom guidelines recommend administering 5% glucose in 0.9% sodium chloride solution, infused intravenously at a rate of 2 L/24 h. Intravenous glucose in water solutions (eg, dextrose 5% or 10% [D5W, D10W]), should be avoided as they may aggravate hyponatremia. Patients experiencing severe attacks, especially those with severe neurologic symptoms, should be treated with hematin in a dose of 4 mg/kg/d for 4 days. Once hematin is initiated, glucose therapy no longer has a role.