Acute porphyria results from a deficiency of enzymes crucial for the heme synthesis process. This deficiency leads to elevated levels of intermediates, resulting in the characteristic symptoms of porphyrias such as abdominal and limb pain, neuropsychiatric issues, and sensitivity to light. In this report, we present the case of a 15-year-old male who experienced deteriorating motor neuropathy and recurrent bouts of abdominal pain. Numerous investigations were conducted, eventually leading to a diagnosis of acute porphyria. Despite attempts with hemin and glucose therapy, his motor neuropathy did not improve. However, significant progress was observed following plasmapheresis sessions. This case emphasizes the importance of considering acute porphyrias as a potential cause when managing patients with acute abdominal problems. By fostering a collaborative approach involving hematologists, physicians, neurologists, and surgeons, timely diagnosis and effective management of this condition can be achieved.
Keywords: acute abdomen; acute porphyria; case report; motor neuropathy; plasmapheresis.
Copyright © 2023, Maqbool et al.