Differential diagnosis of acute abdominal pain – acute intermittent porphyria.

Link to article at PubMed

Differential diagnosis of acute abdominal pain - acute intermittent porphyria.

Med Glas Ljek komore Zenicko-doboj kantona. 2011 Aug;8(2):298-300

Authors: Klobuci? M, Sklebar D, Ivanac R, Vrabec Matkovi? D, Jug-Klobuci? A, Sklebar I

Abstract
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 dominated by 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-five- year-old female patient, who had undergone a period of six days between the first presentation to the medical department and the diagnosis confirmation. It has accentuated possible mistakes in symptomatic therapy administration as well as dangers of a delayed diagnosis.

PMID: 21849959 [PubMed - indexed for MEDLINE]

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