Recommendations for the diagnosis and treatment of the acute porphyrias

Karl Anderson, Joseph R. Bloomer, Herbert L. Bonkovsky, James P. Kushner, Claus A. Pierach, Neville R. Pimstone, Robert J. Desnick

Research output: Contribution to journalArticle

320 Citations (Scopus)

Abstract

The acute porphyrias, 4 inherited disorders of heme biosynthesis, cause life-threatening attacks of neurovisceral symptoms that mimic many other acute medical and psychiatric conditions. Lack of clinical recognition often delays effective treatment, and inappropriate diagnostic tests may lead to misdiagnosis and inappropriate treatment. We review the clinical manifestations, pathophysiology, and genetics of the acute porphyrias and provide recommendations for diagnosis and treatment on the basis of reviews of the literature and clinical experience. An acute porphyria should be considered in many patients with unexplained abdominal pain or other characteristic symptoms. The diagnosis can be rapidly confirmed by demonstration of a markedly increased urinary porphobilinogen level by using a single-void urine specimen. This specimen should also be saved for quantitative measurement of porphobilinogen, 5-aminolevulinic acid, and total porphyrin levels. Intravenous hemin therapy, started as soon as possible, is the most effective treatment. Intravenous glucose alone is appropriate only for mild attacks (mild pain, no paresis or hyponatremia) or until hemin is available. Precipitating factors should be eliminated, and appropriate supportive and symptomatic therapy should be initiated. Prompt diagnosis and treatment greatly improve prognosis and may prevent development of severe or chronic neuropathic symptoms. We recommend identification of at-risk relatives through enzymatic or gene studies.

Original languageEnglish (US)
Pages (from-to)439-450
Number of pages12
JournalAnnals of Internal Medicine
Volume142
Issue number6
StatePublished - Mar 15 2005
Externally publishedYes

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Acute Intermittent Porphyria
Porphobilinogen
Hemin
Therapeutics
Precipitating Factors
Aminolevulinic Acid
Hyponatremia
Porphyrins
Paresis
Diagnostic Errors
Heme
Routine Diagnostic Tests
Abdominal Pain
Psychiatry
Urine
Glucose
Pain

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Anderson, K., Bloomer, J. R., Bonkovsky, H. L., Kushner, J. P., Pierach, C. A., Pimstone, N. R., & Desnick, R. J. (2005). Recommendations for the diagnosis and treatment of the acute porphyrias. Annals of Internal Medicine, 142(6), 439-450.

Recommendations for the diagnosis and treatment of the acute porphyrias. / Anderson, Karl; Bloomer, Joseph R.; Bonkovsky, Herbert L.; Kushner, James P.; Pierach, Claus A.; Pimstone, Neville R.; Desnick, Robert J.

In: Annals of Internal Medicine, Vol. 142, No. 6, 15.03.2005, p. 439-450.

Research output: Contribution to journalArticle

Anderson, K, Bloomer, JR, Bonkovsky, HL, Kushner, JP, Pierach, CA, Pimstone, NR & Desnick, RJ 2005, 'Recommendations for the diagnosis and treatment of the acute porphyrias', Annals of Internal Medicine, vol. 142, no. 6, pp. 439-450.
Anderson K, Bloomer JR, Bonkovsky HL, Kushner JP, Pierach CA, Pimstone NR et al. Recommendations for the diagnosis and treatment of the acute porphyrias. Annals of Internal Medicine. 2005 Mar 15;142(6):439-450.
Anderson, Karl ; Bloomer, Joseph R. ; Bonkovsky, Herbert L. ; Kushner, James P. ; Pierach, Claus A. ; Pimstone, Neville R. ; Desnick, Robert J. / Recommendations for the diagnosis and treatment of the acute porphyrias. In: Annals of Internal Medicine. 2005 ; Vol. 142, No. 6. pp. 439-450.
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