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Differential diagnosis of acute abdominal pain - acute intermittent porphyria

Mislav Klobucić1, Duska Sklebar, Renata Ivanac

  • 1Department of Internal Medicine, General Hospital Bjelovar, Croatia. mislav.klobucic@bj.t-com.hr

Medicinski Glasnik : Official Publication of the Medical Association of Zenica-Doboj Canton, Bosnia and Herzegovina
|August 19, 2011
PubMed

Insights

Acute intermittent porphyria (AIP) is a rare genetic disorder causing severe pain and neurological symptoms. Prompt diagnosis and treatment are crucial to prevent complications from delayed care.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Acute intermittent porphyria (AIP) is an autosomal dominant disorder impacting heme biosynthesis.
  • It results from a deficiency in the porphobilinogen deaminase enzyme within the liver.

Observation:

  • A 25-year-old female presented with symptoms including severe colicky pain unresponsive to analgesics, vomiting, and hypertension.
  • Her initial presentation to the medical department was followed by a six-day period before diagnosis confirmation.

Findings:

  • The case highlights potential missteps in symptomatic treatment for AIP.
  • Delayed diagnosis can exacerbate the severe clinical manifestations of AIP.

Implications:

  • Emphasizes the need for heightened clinical suspicion for AIP in patients with unexplained severe abdominal pain and neurological symptoms.
  • Underscores the importance of timely and accurate diagnosis to mitigate the risks associated with delayed porphyria management.

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