Acute Intermittent Porphyria Mimicking Severe Coprostasis in a Patient on Opioid Maintenance Therapy

Carolin Glatzle1, Felix Gerstendörfer1, Armon Arpagaus1

  • 1Division of Internal Medicine, University Hospital Basel, Basel, Switzerland.

Abstract

Insights

Acute intermittent porphyria (AIP) can mimic opioid-induced constipation, delaying diagnosis. Recognizing AIP in patients with severe abdominal pain and atypical symptoms is crucial for timely treatment and improved outcomes.

Area of Science:

  • Biochemistry
  • Genetics
  • Internal Medicine

Background:

  • Acute intermittent porphyria (AIP) is a rare, inherited disorder of heme biosynthesis.
  • AIP attacks often manifest as severe abdominal pain, potentially triggered by factors like caloric deprivation.
  • Delayed diagnosis is frequent due to nonspecific symptoms, disease rarity, and cognitive biases.

Purpose of the Study:

  • To highlight the diagnostic challenges of AIP, particularly when presenting with common conditions like opioid-induced constipation.
  • To emphasize the role of atypical symptoms and coexisting factors in delaying AIP recognition.
  • To underscore the importance of reassessing initial diagnoses in non-resolving cases.

Main Methods:

  • Case report of a 30-year-old woman with a history of substance use disorder presenting with abdominal pain.
  • Initial treatment focused on opioid-induced constipation, with subsequent evaluation prompted by persistent symptoms and hyponatremia.
  • Diagnostic reassessment revealed elevated urinary porphyrin precursors, leading to AIP diagnosis and treatment with intravenous hemin and high-carbohydrate therapy.

Main Results:

  • The patient was diagnosed with AIP after initial misattribution to opioid-induced constipation.
  • Persistent symptoms and hyponatremia were key indicators for diagnostic reassessment.
  • Malnutrition and caloric deprivation were identified as likely triggers for the AIP attack.

Conclusions:

  • AIP can present atypically, mimicking other conditions and leading to diagnostic delays.
  • Cognitive biases, such as diagnostic overshadowing in patients with substance use disorder, can impede recognition.
  • Considering AIP in patients with severe abdominal pain and atypical presentations, especially when symptoms persist or are unexplained, is essential.

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