Differential diagnosis of acute abdominal pain – acute intermittent porphyria

• Main Authors: Mislav Klobučić, Duška Šklebar, Renata Ivanac, Dragica Vrabec Matković, Anita Jug-Klobučić, Ivan Šklebar
• Format: Article
• Language: English
• Published: Medical Association of Zenica-Doboj Canton 2011-08-01
• Series: Medicinski Glasnik
• Subjects: intermittent porphyria; autosomal disorder; abdominal pain
• Online Access: http://www.ljkzedo.com.ba/medglasnik/vol82/MGvol82.2011_25.pdf

Acute intermittent porphyria (AIP) is a rare autosomal dominant disorder of heme biosynthesis in liver due to deficiency of porphobilinogen deaminase enzyme. Clinically, AIP is dominatedby a colicky type pain, which does not subside after taking usual analgesics. Additional frequent symptoms are vomiting, hypertension, peripheral neuropathy, seizures, depression, delirium and coma. This paper reported a case of a twenty-fi- ve-year-old female patient, who had undergone a period of six days between the first presentationto the medical department and the diagnosis confirmation. It has accentuated possible mistakes in symptomatic therapy administration as well as dangers of a delayed diagnosis.