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Unveiling the Chameleon: A Case Report on Acute Intermittent Porphyria.
Manish Shrestha1, Shefali Amin1, Christopher Reggio1
1Internal Medicine, Tower Health Medical Group, Reading, USA.
Acute intermittent porphyria (AIP) is a rare metabolic disorder often misdiagnosed in young women. Early diagnosis and treatment, like glucose and hemin infusions, improve patient outcomes and reduce healthcare costs.
Area of Science:
- Metabolic Disorders
- Genetics
- Clinical Case Study
Background:
- Acute intermittent porphyria (AIP) is a rare autosomal dominant metabolic disorder.
- It has low penetrance and diverse clinical manifestations, frequently affecting young women.
- AIP attacks can mimic other conditions, leading to diagnostic delays.
Observation:
- An 18-year-old female presented with recurrent, intractable abdominal pain and hematuria.
- Extensive initial workup, including imaging and celiac disease testing, was unremarkable.
- Symptoms were initially attributed to functional or psychiatric causes.
Findings:
- Genetic testing revealed low levels of porphobilinogen deaminase (PBGD) and a hydroxymethylbilane synthase (HMBS) gene mutation, confirming AIP.
- Treatment with oral glucose and IV hemin infusions led to symptom resolution.
- This case highlights the diagnostic challenges of AIP due to its nonspecific presentation.
Implications:
- Clinicians should maintain a high suspicion for AIP in young females with neurovisceral and psychiatric symptoms.
- Timely diagnosis of AIP is crucial for improving patient quality of life.
- Prompt diagnosis can prevent the overutilization of healthcare resources for misdiagnosed conditions.
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