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Acute Intermittent Porphyria: A Diagnostic Conundrum.
Vijay Balaji Vadivel1, Simran Lamba2
1Acute Medicine, Cumberland Infirmary, North Cumbria Integrated Care, NHS Trust, Carlisle, GBR.
Cureus
|October 28, 2024
Summary
This case report details a young woman diagnosed with acute intermittent porphyria (AIP) after presenting with severe abdominal pain. Early recognition and specialist care are crucial for managing this rare disorder.
Area of Science:
- Biochemistry
- Internal Medicine
- Genetics
Background:
- Acute intermittent porphyria (AIP) is a rare genetic disorder affecting heme biosynthesis.
- AIP episodes can present with nonspecific symptoms, mimicking other common conditions.
- Early diagnosis and management are critical to prevent severe neurological and psychiatric complications.
Observation:
- A 20-year-old female presented with severe abdominal pain, nausea, vomiting, tachycardia, hypertension, and discolored urine.
- Initial investigations were unremarkable, but elevated urinary porphobilinogen confirmed AIP.
- The patient had a history of recurrent UTIs, SIADH, anxiety, and depression.
Findings:
- Management included supportive care, avoidance of contraindicated drugs, and intravenous Haem arginate.
- The patient initially improved but later required re-hospitalization due to symptom recurrence.
- This case underscores the diagnostic challenges of AIP in young women with nonspecific symptoms.
Implications:
- Highlights the need for a high index of suspicion for AIP in young women with unexplained abdominal pain and systemic symptoms.
- Emphasizes the importance of prompt specialist consultation for effective management and prevention of complications.
- Recommends enhanced educational programs in Acute Medicine to improve awareness and timely diagnosis of acute porphyrias.
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