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

Abstract: 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.

Angaben zum Objekt

• Standort: Deutsche Nationalbibliothek Frankfurt am Main
• Umfang: Online-Ressource
• Sprache: Englisch

Verweise und Beziehungen

• Erschienen in: A case of previously undiagnosed acute intermittent porphyria in a 34-year-old primigravida with gestational diabetes mellitus ; volume:6 ; number:2 ; year:2017 ; extent:3 ; Case reports in perinatal medicine ; 6, Heft 2 (2017) (gesamt 3)

Beteiligte, Orts- und Zeitangaben

• Urheber: Žebeljan, Ivan ; Anzeljc, Veronika ; Serdinšek, Tamara ; Mujezinović, Faris

Weitere Informationen

• DOI: 10.1515/crpm-2017-0003
• URN: urn:nbn:de:101:1-2411121517294.976371679717
• Rechteinformation: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
• Letzte Aktualisierung: 15.08.2025, 07:28 MESZ