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Porphyrias - diagnostic challenge in Emergency room


1Department of Laboratory Diagnostics, University Hospital Centre Zagreb, Zagreb, Croatia

DOI: 10.22514/SV101.062015.27 Vol.10,Issue S1,June 2015 pp.87-88

Published: 22 June 2015

*Corresponding Author(s): MILA LOVRIĆ E-mail:


Porphyrias form a heterogeneous group of disorders of haem biosynthesis. They are often missed or wrongly diagnosed in the emergency department. Acute porphyrias present most commonly as abdominal pain or as neurological or atypical psy-chiatric symptoms. The variety of clinical features may delay diagnosis, and unrec-ognized disease is potentially life-threaten-ing. The frequency and severity of attacks vary widely. In some people, this disease remains latent throughout life, even in the presence of precipitating factors. Other people experience frequent and sometimes life-threatening attacks even in the appar-ent absence of exogenous precipitating fac-tors.

Laboratory diagnosis of acute porphyria includes porphyrin precursors delta ami-nolevulic acid and porphobilinogen. Pa-tients presenting with acute crises often have several-fold increases in PBG above the reference interval, usually > 10 times the upper reference limit. Hyponatremia and rabdomyolysis are relatively common manifestation accompanying acute attack. 


porphyria, laboratory diagnos-tic, emergency room

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MILA LOVRIĆ. Porphyrias - diagnostic challenge in Emergency room. Signa Vitae. 2015. 10(S1);87-88.


1. Harper P, Sardh E. Management of acute intermittent porphyria. Expert Opinion on Orphan drugs 2014:2;349-362.

2. Minder EI, Schneider-Yin X. Porphyrins, porphobilinogen and δ-aminolevulic acid. U: Blau N, Duran M, Gibson KM. Laboratory guide to the methods in biochemical genetics. Berlin-Heidelberg: Springer Verlag, 2008;751-80.

3. Deacon A, Whatley SD, Elder GH. Porphyrins and Disorders of Porphyrin Metabolism. U Burtis CA, Ashwood ER, DE Bruns: Tietz textbook of clinical chemistry and molecular diagnostics. St Louis, SAD; Elsevier Saunders, 2006; 527-38.

4. Sassa S. Modern diagnosis and management of the porphyrias. British Journal of Haematology 2006: 135; 281-92.

5. Thadani H, Deacon A, Peters T. Diagnosis and management of porphyria, BMJ 2000:320;1647-51.

6. Foran SE, Abel G. Guide to Porphyrias: A Historical and Clinical Perspective, Am J Clin Pathol 2003: 119;87-93.

7. Arsanad AK, Villanger JH, Stole E, Deybach JC, Marsden J, To-Figueras J, Badminton M, Elder GH, Sandberg S. European Specialst Porphyria Laboratory: Diagnostic Strategies, Analytical Quality, Clinical Interpretation, and Reporting As Assessed by External Quality Assurance Program, Clin Chem 2011: 57;1514-23.

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