Unmasking clinical heterogeneity and diagnostic conundrums of acute intermittent porphyria: a case series from the middle east

Background Acute intermittent porphyria (AIP) is a rare inherited metabolic disorder caused by an alteration in the heme synthesis pathway leading to the accumulation of porphyrins and their precursors, δ-aminolevulinic acid (ALA) and porphobilinogen (PBG). Although most patients are asymptomatic, AIP is typically characterized by a triad of abdominal pain, neurologic impairment, and psychiatric abnormalities; experienced by only a small percentage of symptomatic patients. The disease onset is usually reported to occur between the ages of 20 and 40. Due to its heterogeneity, the diagnosis of AIP is challenging and ruling out other diseases solely based on clinical assessment is difficult. Results This case series presents three cases of AIP with diverse clinical presentations encountered in Emirati patients at Burjeel Hospital in Abu Dhabi. Conclusions This case series highlights the diagnostic difficulties and the impact of novel therapeutic strategies such as givosiran in improving patient outcomes.