Overview
Acute hepatic porphyrias (AHP) are rare genetic disorders affecting heme metabolism, including acute intermittent porphyria, hereditary coproporphyria, variegate porphyria, and 5-aminolevulinic acid dehydratase deficiency porphyria. These conditions primarily manifest as recurrent episodes of severe abdominal pain, often in women aged 15-50 years 1.Diagnosis
Clinical Presentation: Recurrent severe abdominal pain without peritoneal signs or imaging abnormalities 1.
Screening Tests: Elevated urinary porphobilinogen and/or δ-aminolevulinic acid corrected to creatinine 1.
Initial Presumption: Elevations in urinary porphobilinogen and/or δ-aminolevulinic acid suggest AHP 1.Management
Discontinue Porphyrinogenic Agents: Stop any drugs or chemicals known to trigger attacks 1.
Glucose Administration: Oral or intravenous dextrose to stabilize metabolic state 1.
Heme Therapy: Consideration of hemin therapy under specific clinical scenarios, though detailed dosing not provided in abstracts 2.Special Populations
Pregnancy: Specific management considerations not detailed in provided abstracts 1.
Pediatrics: Management strategies for pediatric patients not addressed in abstracts 1.
Elderly: No specific guidance provided for elderly patients in the abstracts 1.
Comorbidities: Impact of comorbidities on management not discussed 1.Key Recommendations
Consider AHP in Women Aged 15-50 with Recurrent Severe Abdominal Pain: Evaluate for AHP in this demographic, especially when common causes are excluded (Evidence: Expert opinion) 1.
Use Urinary Porphobilinogen and δ-Aminolevulinic Acid for Screening: Employ these biomarkers for initial screening of AHP (Evidence: Expert opinion) 1.
Discontinue Porphyrinogenic Drugs and Administer Glucose: Manage acute attacks by discontinuing triggering agents and providing glucose (Evidence: Expert opinion) 1.References
1 Wang B, Bonkovsky HL, Lim JK, Balwani M. AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review. Gastroenterology 2023. link
2 Badawy AA. Multiple roles of haem in cystathionine β-synthase activity: implications for hemin and other therapies of acute hepatic porphyria. Bioscience reports 2021. link