Characterizing hepatic porphyria: Insights from a quaternary care hospital in Bogotá, Colombia (2013-2023).

Abstract

IntroductionAcute hepatic porphyrias are rare, life-threatening genetic disorders that impair heme biosynthesis, often presenting with nonspecific symptoms that lead to misdiagnosis. This diagnostic challenge and low clinical recognition can delay targeted treatment, increasing morbidity and mortality. Although there have been advances in understanding porphyrias' biochemical pathways, improved diagnostic approaches are still needed, especially in acute care. This study examined diagnostic and clinical patterns of acute hepatic porphyria at a quaternary care hospital in Bogotá, Colombia, to support earlier detection and management.Materials and MethodsThis descriptive, observational, retrospective study reviewed patients diagnosed with acute hepatic porphyria at the Internal Medicine service of a Bogotá hospital from 2013 to 2023. Patients with confirmed diagnoses recorded in the hospital database were included. Data collected covered demographic characteristics, clinical presentation, diagnostic markers, and treatment. Key outcome measures were time to diagnosis, recurrence frequency, and hospitalization duration.ResultsTen patients were included, 80% of whom were female, with a median age of 32 years. Diagnosis was confirmed by urine porphobilinogen tests. All patients reported abdominal pain during attacks; 90% had tachycardia and paresis/weakness of extremities. Attack durations ranged from 4 to 11 days, with 90% treated with hemin. Median hospital stay was 18 days. Drug use and infections were common precipitants, and 40% of female patients had premenstrual-associated attacks.ConclusionsThis study provides a clinical profile of acute hepatic porphyria in a Colombian hospital, highlighting neurovisceral symptoms and female predominance. Findings suggest the need for early diagnostic protocols to prevent treatment delays, although larger studies are required to confirm these findings across different settings.