Unexpected presentation of acute porphyria

Area of Science:

• Clinical Medicine
• Rare Diseases
• Neurology

Background:

• Acute porphyrias are rare genetic disorders affecting heme synthesis.
• Underdiagnosis is common in Southeast Asia due to non-specific symptoms and low physician awareness.
• Cognitive bias towards common conditions can delay diagnosis.

Observation:

• A 28-year-old woman presented with seizures, rhabdomyolysis, hyponatremia, and altered mental state.
• Initial diagnosis was amphetamine overdose; prior symptoms of abdominal pain were treated as cystitis.
• Despite seizure control and sodium normalization, the patient remained unwell.

Findings:

• Further investigations confirmed a diagnosis of acute porphyria.
• The case illustrates the diverse and non-specific clinical presentation of acute porphyria.
• Delayed diagnosis occurred due to initial misinterpretation of symptoms.

Implications:

• Highlights the need to consider acute porphyria in differential diagnoses for abdominal pain with neuropsychiatric symptoms.
• Emphasizes the importance of physician education on rare diseases in diverse geographical regions.
• Underscores the challenge of diagnosing conditions with protean manifestations.