Title : Acute intermittent porphyria: A neurological dilemma obscured by ubiquitous fgastrointestinal presentation
Abstract:
Background: Acute intermittent porphyria (AIP) is a rare hepatic porphyria that may progress to severe neurovisceral complications if unrecognized. Its early clinical features often mimic common gastrointestinal (GI) disorders, resulting in frequent misdiagnoses and delayed treatment. Early identification is critical to prevent irreversible neurological injury.
Objective: This review aims to highlight early clinical features of AIP, examine common misdiagnosis patterns, and emphasize strategies for timely recognition and management.
Methods: A narrative review of published literature and case reports was conducted to identify typical presentations, diagnostic pitfalls, and early screening approaches. Focus was placed on integrating multisystemic features to enhance clinical recognition.
Results: Abdominal pain emerged as the most consistent early symptom, often leading to misdiagnoses including cholecystitis, appendicitis, colitis, and psychiatric disorders. Cases demonstrated progression to seizures, hyponatremia, neuropsychiatric manifestations, and peripheral neuropathies before correct diagnosis. A single, rapid, and widely available screening test—urinary porphobilinogen (PBG)—remains the most effective first-line diagnostic tool. Awareness of precipitating factors, neuropsychiatric signs, and syndrome of inappropriate antidiuretic hormone secretion (SIADH) significantly improves early detection. Genetic testing (HMBS, ALAD) further facilitates confirmation and family screening.
Conclusion: AIP should be considered in the differential diagnosis of unexplained or recurrent abdominal pain, particularly when accompanied by neuropsychiatric features. Early urinary PBG screening, structured diagnostic algorithms, and heightened clinical suspicion can prevent severe complications and improve patient outcomes.
Keywords: Acute intermittent porphyria, abdominal pain, neurovisceral complications, urinary porphobilinogen, diagnostic delay, rare metabolic disorder
