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