# Unraveling Complexity: Acute Intermittent Porphyria Complicated by Rhabdomyolysis and Acute Pancreatitis

**Authors:** Joseph Norman, Mario Soliman

PMC · DOI: 10.7759/cureus.65826 · Cureus · 2024-07-31

## TL;DR

This paper describes a rare and complex case of acute intermittent porphyria complicated by rhabdomyolysis and acute pancreatitis in a 34-year-old woman.

## Contribution

The novelty lies in presenting a unique clinical case with atypical presentation of AIP, emphasizing the diagnostic challenges and management complexities.

## Key findings

- The patient exhibited severe abdominal pain, oliguria, and neurological deficits.
- Diagnostic complexity arose due to the absence of typical attack periods in AIP.
- The case highlights the importance of clinical suspicion for accurate diagnosis.

## Abstract

Acute intermittent porphyria (AIP) is a rare autosomal dominant disorder characterized by defective porphyrin metabolism in the blood. It manifests through variable clinical features, among these are abdominal pain, nausea, vomiting, peripheral neuropathy, and seizure. The diverse presentation of AIP poses substantial diagnostic challenges due to its potential to mimic other medical conditions, delaying early recognition and intervention. Management strategies of AIP involve a multifaceted approach, focusing on symptom relief and attack cessation. Early recognition and intervention are pivotal in optimizing patient outcomes, highlighting the importance of heightened clinical suspicion and precise diagnostic pathways.

We present a unique case of a 34-year-old female who presented to the emergency department with severe abdominal pain, oliguria, and progressive sensory and motor deficits. Despite exhibiting hallmark symptoms suggestive of AIP, the absence of distinctive "attack periods" added complexity to the diagnostic process, requiring the exclusion of other medical conditions with similar overlapping symptoms.

## Linked entities

- **Diseases:** acute intermittent porphyria (MONDO:0008294), rhabdomyolysis (MONDO:0005290), acute pancreatitis (MONDO:0006515)

## Full-text entities

- **Diseases:** abdominal pain (MESH:D015746), AIP (MESH:D017118), peripheral neuropathy (MESH:D010523), sensory and motor deficits (MESH:D001289), Rhabdomyolysis (MESH:D012206), nausea (MESH:D009325), seizure (MESH:D012640), autosomal dominant disorder (MESH:D030342), vomiting (MESH:D014839), Pancreatitis (MESH:D010195), oliguria (MESH:D009846)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

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## References

20 references — full list in the complete paper: https://tomesphere.com/paper/PMC11364496/full.md

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Source: https://tomesphere.com/paper/PMC11364496