Acute Intermittent Porphyria and Pregnancy: A Case Report

Acute intermittent porphyria is a rare autosomal dominant illness due to a mutation in the gene that codes for the porphobillinogen deaminase enzymes involved in heam biosynthesis. The disease causes acute attacks of neuropsychiatric dysfunction as well as neurovisceral manifestations such as acute abdomen. Due to hormonal changes, 54 percent of pregnant women experience an exacerbation of attacks in the form of seizures and acute abdomen. In general, the prevalence of acute intermittent porphyria is 1-2/200000. We present a case of a 36-year-old woman with G4P1L2A2 who presented with a pregnancy termination request at 10+4 weeks of gestation. Six months ago, the patient was diagnosed with acute intermittent porphyria with porphyric polyneuropathy. Her main symptoms at the time were acute abdominal pain, numbness, and weakness in all four limbs. Her urinary porphobillinogen and 5 ALA levels were elevated. Her brain CECT and nerve conduction studies were normal. She has been on Tablet Gabapentin 300 mg H.S. since then. She successfully terminated her pregnancy via suction and evacuation while under spinal anaesthesia, and she refused copper-T insertion. Only safe drugs were used during the procedure, and she was discharged with the recommendation of barrier contraception. As the acute attacks of porphyria are increased during pregnancy & carry high maternal & fetal mortality, it is important to prevent acute attack by avoiding precipitating factors including drugs.