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Porphyria: a case report.
Sujata Baidya1, Pratibha Kandel1, Smrity Rajkarnikar1
1Department of Clinical Biochemistry, Institute of Medicine, Maharajgunj Medical Campus, Kathmandu, Nepal.
Journal of Medical Case Reports
|December 27, 2022
Summary
Diagnosing acute intermittent porphyria (AIP) in resource-limited settings is challenging. This case demonstrates AIP diagnosis in a Nepalese teen using a simple screening test, highlighting the importance of considering rare metabolic disorders.
Area of Science:
- Metabolic Disorders
- Rare Diseases
- Clinical Diagnosis
Background:
- Metabolic disorder diagnosis is challenging in resource-limited settings like Nepal.
- Acute intermittent porphyria (AIP) is a rare hepatic porphyria primarily affecting women of reproductive age.
- AIP's uncommon incidence often leads to diagnostic challenges.
Observation:
- A 15-year-old girl presented with severe abdominal pain, constipation, and limb pain.
- She exhibited acute severe hypertension and profound hyponatremia (109 mEq/L).
- Despite initial management, persistent electrolyte imbalance suggested a renin-angiotensin-aldosterone system disturbance, necessitating intensive care.
Findings:
- Clinical suspicion shifted to porphyria-related disorders after excluding other diagnoses.
- A positive Watson-Schwartz test confirmed acute intermittent porphyria (AIP).
- High-carbohydrate diet consumption led to symptom resolution.
Implications:
- AIP can present with symptoms mimicking common diseases, causing diagnostic delays.
- Simple screening tools can aid in diagnosing porphyria.
- Timely diagnosis and treatment of AIP are crucial to prevent severe complications.
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