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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.
Introduction:
Acute intermittent porphyria (AIP) is a rare hereditary metabolic disorder in haem biosynthesis that presents with severe abdominal pain. Attacks may be triggered by caloric deprivation. Diagnostic delay is common and reflects non-specific clinical presentations, the rarity of the disease and cognitive biases in clinical decision-making.
Case Description:
A 30-year-old woman with opioid and benzodiazepine use disorder presented with abdominal pain and constipation and was initially treated for opioid-induced constipation. Persistent symptoms and hyponatraemia prompted further evaluation, revealing markedly elevated urinary porphyrin precursors. She was diagnosed with AIP and treated with intravenous hemin and high-carbohydrate therapy.
Discussion:
This case illustrates the diagnostic challenge of AIP when plausible alternative explanations such as opioid-induced constipation are present. Persistent symptoms and hyponatraemia due to SIADH served as key clues prompting diagnostic reassessment. Diagnostic overshadowing may have contributed to delayed recognition in the context of substance use disorder. Concurrent severe malnutrition with caloric deprivation likely triggered the attack via accumulation of neurotoxic haem precursors, underscoring the importance of diagnostic flexibility in atypical or non-resolving cases.
Conclusion:
This case underscores the need to consider AIP in patients with severe abdominal pain and atypical clinical courses.
Learning Points:
Acute intermittent porphyria (AIP) can present as opioid-induced coprostasis, increasing the risk of diagnostic anchoring and delay.Coexisting factors (opioid therapy, psychiatric comorbidity, malnutrition) may act simultaneously as triggers, mimics and sources of cognitive bias.Reconsidering the initial diagnosis in atypical or non-resolving cases is essential to counter cognitive bias and improve outcomes in rare but treatable conditions.
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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