A case of previously undiagnosed acute intermittent porphyria in a 34-year-old primigravida with gestational diabetes mellitus

Porphyrias are very rare and easily overlooked diseases in pregnancy. Among these eight known metabolic disorders, acute intermittent porphyria (AIP) is the most common and most severe type. An enzymatic alteration in the haem biosynthesis pathway causes liver overproduction of neurotoxic toxic meta...

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Published inCase reports in perinatal medicine Vol. 6; no. 2; pp. 924 - 926
Main Authors Žebeljan, Ivan, Anzeljc, Veronika, Serdinšek, Tamara, Mujezinović, Faris
Format Journal Article
LanguageEnglish
Published Berlin De Gruyter 01.07.2017
Walter de Gruyter GmbH
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Summary:Porphyrias are very rare and easily overlooked diseases in pregnancy. Among these eight known metabolic disorders, acute intermittent porphyria (AIP) is the most common and most severe type. An enzymatic alteration in the haem biosynthesis pathway causes liver overproduction of neurotoxic toxic metabolites, which cause attacks of acute neurovisceral symptoms, severe abdominal pain and/or skin lesions. Women with AIP can sometimes develop their first acute attack during pregnancy, and because the symptoms are unspecific, the diagnosis is difficult to obtain and often missed. However, prompt diagnosis of AIP during pregnancy is crucial as treatment can significantly improve the pregnancy outcome. The backbone of the therapy is food rich with carbohydrates, complemented by 20% glucose infusion and adequate pain control. We present a case of previously undiagnosed AIP in a 34-year primigravida, whose treatment was especially challenging due to co-existing gestational diabetes mellitus and problems with the central venous catheter.
ISSN:2192-8959
2192-8932
2192-8959
DOI:10.1515/crpm-2017-0003