Presentations associated with porphyrias in intensive care units

Abstract

Porphyrias are a group of uncommon congenital metabolic diseases that are difficult to diagnose as they often present with nonspecific symptoms, mimicking other diseases. A significant number of patients with porphyrias have been admitted to intensive care units with acute abdominal pain, neuro-psychiatric symptoms, or hyponatremia. Due to the nonspecific symptoms, many patients have a delayed diagnosis. Moreover, some patients have received treatments that precipitate acute porphyric attacks, such as antibiotics or antiepileptics, causing worsening of symptoms. This article reviews the various clinical presentations and appropriate treatment of acute porphyrias in the ICU. Early diagnosis and appropriate management are important for preventing long-term disability and achieving good outcomes.

Keywords

• acute intermittent porphyria, pain, neuropathy, hyponatremia