The Role Of Early Evaluation Of Porphyrins In Diagnosis Of Acute Porphyria

Galina Zemtsovskaja1,*, Agnes Ivanov2, Marika Pikta1

1Clinical chemistry and haematology, North Estonia Medical Centre, Tallinn, 2Clinical chemistry and haematology, Tartu University Hospital, Tartu, Estonia

Introduction: Acute porphyrias (AP) is a group of rare metabolic disorders whose diagnosis depends on identification of specific patterns of porphyrins (P). Diagnosis of AP is often delayed due to inspecificity of symptoms and the lacking of P measurement in the laboratories.


Objectives: The aim of our study was to demonstrate the importance of rapid investigation of the P during suspected attack of AP.

Methods: In order to demostrate the importance of early diagnosis of AP using labaratory methods, the  clinical outcome of a patient suffering from AP is described using dates of anamnesis, subjective status and objective evaluation including investigation of porphobilinogen (PBG), 5-aminolevulinic acid (ALA) and uro+coproporphyrins (Porph) in urine by Bio-Rad test columns.

Results: A 30 year-old woman was presented to the emergency department (ED) with acute distress accompaniying poorly localized abdominal pain without peritoneal signs. She has been suffering for the last days  with 2 episodes of similar pain lasting for 2-3 days each. During this period she was presented to the ED of different hospitals and has undergone various diagnostic  and surgical evaluations, including laparoscopy. All of the manipulations neither confirmed a diagnosis nor prevented further attacks. AP was taken into consideration at this presentation as the most common causes of abdominal pain have been excluded. Urine sample was sent to the laboratory for PBG, ALA and Porph testing. Empiric therapy for AP was administrated. Results of urine tests were available 4 hours afterward and showed significant elevation: PBG 581 micromol/l(ref <8,8), ALA 492 micromol/l (ref<34,3), Porph 1644nmol/l (ref<320). Hemin therapy was administered after the establishment of the diagnosis.

Conclusion: Given study shows that in case of recurrent abdominal pain, AP should be taken into consideration on par with other ethiologies. A specialized laboratory must provide tests for porphyrins to confirm or exclude AP.

Keywords: Biomarker