Presentations associated with porphyrias in intensive care units
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.
The American Porphyria Foundation. Vol 2015. http://www.porphyriafoundation.com, Accessed October 24, 2015.
Balwani M and Desnick RJ. The porphyrias: advances in diagnosis and treatment. Blood 120: 4496-4504, 2012.
Puy H, Gouya L, and Deybach JC. Porphyrias. Lancet 375: 924-937, 2010.
Anderson KE, Bloomer JR, Bonkovsky HL, Kushner JP, Pierach CA, Pimstone NR, and Desnick RJ. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med 142: 439-450, 2005.
Bylesjö I, Forsgren L, Lithner F, and Boman K. Epidemiology and clinical characteristics of seizures in patients with acute intermittent porphyria. Epilepsia 37: 230-235, 1996.
Zadra M, Grandi R, Erli LC, Mirabile D, and Brambilla A. Treatment of seizures in acute intermittent porphyria: safety and efficacy of gabapentin. Seizure 7: 415-416, 1998.
Harrison JC and McAuley FT. Propofol for sedation in intensive care in a patient with an acute porphyric attack. Anaesthesia 47: 355-356, 1992.
Albers JW and Fink JK. Porphyric neuropathy. Muscle Nerve 30: 410-422, 2004.
Crimlisk HL. The little imitator--porphyria: a neuropsychiatric disorder. J Neurol Neurosurg Psychiatry 62: 319-328, 1997.
Meyer UA, Schuurmans MM, and Lindberg RL. Acute porphyrias: pathogenesis of neurological manifestations. Semin Liver Dis 18: 43-52, 1998.