Abstract
Neurological complications are important components of an acute attack of porphyria, and early diagnosis and treatment of porphyria could prevent the development of these complications. Pischik et al. investigated the frequency of acute porphyria among patients admitted to neurological wards in Russia. The investigators identified 108 patients with acute polyneuropathy or encephalopathy, along with abdominal pain, back pain and/or dysautonomia. Urine samples were screened for acute porphyria by use of the qualitative Watson–Schwartz test for porphobilinogen and through measurement of coproporphyrin. Twelve patients had acute intermittent porphyria, and 11 had false-positive results. The specificity of the screen would have been improved by omission of the coproporphyrin test. The Watson–Schwartz test is, by itself, unreliable, and any positive test should be confirmed quantitatively. Improved identification of acute porphyria requires heightened clinical awareness and access to urinary porphobilinogen measurement. We suggest that all hospitals that admit acutely ill patients should be able to provide a validated determination of porphobilinogen within 24 h.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
References
Sassa S (2006) Modern diagnosis and management of the porphyrias. Br J Haematol 135: 281–292
Bonkovsky HL et al. (2008) Case records of the Massachusetts General Hospital: case 20-2008: a 57-year-old woman with abdominal pain and weakness after gastric bypass surgery. N Engl J Med 358: 2813–2825
Hift RJ and Meissner PN (2005) An analysis of 112 acute porphyric attacks in Cape Town, South Africa. Medicine 84: 48–60
Pischik E et al. (2005) Clinical features predictive of a poor prognosis in acute porphyria. J Neurol 251: 1538–1541
European Porphyria Initiative [http://www.porphyria-europe.com]
Kauppinen R et al. (2002) Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families. Clin Chem 48: 1891–1900
Pischik E et al. (2008) Is screening for urinary porphobilinogen useful among patients with acute polyneuropathy or encephalopathy. J Neurol 255: 974–979
Hift RJ and Meissner PN (2003) Miscellaneous abnormalities in porphyrin production and disposal. In The Porphyrin Handbook, vol. 14, Medical Aspects of Porphyrias, 151–168 (Eds Kadish KM. et al.) Amsterdam: Academic Press
Deacon AC and Elder GH (2001) Front line tests for the investigation of suspected porphyria. J Clin Path 54: 500–507
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Competing interests
The authors declare no competing financial interests.
Rights and permissions
About this article
Cite this article
Elder, G., Sandberg, S. Identifying acute porphyria in patients with acute polyneuropathy or encephalopathy. Nat Rev Neurol 4, 648–649 (2008). https://doi.org/10.1038/ncpneuro0946
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1038/ncpneuro0946