A case report from Saudi Arabia highlights the diagnostic challenges faced by healthcare professionals in identifying acute intermittent porphyria (AIP) in a pregnant woman, as detailed in the study “Acute Intermittent Porphyria Labeled Initially As Guillain-Barre Syndrome: Challenging Diagnosis,” published in the journal Cureus.
The case involves a 33-year-old pregnant woman experiencing severe abdominal pain before delivery and exhibiting worsening neurological symptoms postpartum. The diagnostic journey was marked by several misdiagnoses, showcasing the complexities of recognizing neurologic porphyria due to its atypical clinical presentation.
AIP, a genetic disorder caused by HMBS gene mutations affecting heme production, leads to the toxic accumulation of porphyrins. Typically, patients with AIP face recurrent abdominal pain and neurological symptoms, often affecting peripheral nerves.
In this instance, the woman, with a history of ovarian issues and undergoing in vitro fertilization resulting in a triplet pregnancy, suffered severe abdominal pain at 23 weeks of gestation. After the premature birth of the triplets, her condition deteriorated, leading to various medical interventions and misdiagnoses, including suspected meningitis and postpartum psychosis.
Despite treatments, the woman continued to experience abdominal and leg pain, hallucinations, insomnia, and weakness. A thorough examination revealed low blood sodium levels, further complicating the diagnostic process. The suspicion of Guillain-Barré syndrome prompted specific treatments, but her clinical history suggested porphyria.
A comprehensive analysis three weeks later confirmed the presence of high levels of porphyrins and porphobilinogen, ultimately confirming the AIP diagnosis. Treatment with intravenous Panhematin was initiated, but the patient’s neurological improvement remained minimal, requiring continued ventilatory support.
The case underscores the importance of considering acute porphyria attacks in patients with persistent unexplained abdominal pain and peripheral neuropathies. The study’s authors emphasize the need for heightened awareness among healthcare professionals to ensure timely and accurate diagnoses, especially in pregnancy-related cases. Misdiagnoses or delayed diagnoses can lead to adverse health outcomes and mortality in patients with AIP.
