Erythropoietic Protoporphyria: Initial Diagnosis With Cholestatic Liver Disease

Area of Science:

• Biochemistry
• Genetics
• Pediatric Hepatology

Background:

• Porphyrias are rare metabolic disorders stemming from heme biosynthesis defects.
• Erythropoietic protoporphyria (EPP) is the most common inherited porphyria in children, typically diagnosed after skin issues appear.
• Hepatobiliary disease is an uncommon complication of EPP, usually seen in diagnosed patients.

Observation:

• A rare case of EPP presented atypically, mimicking cholestasis in an 8-year-old boy.
• The patient exhibited abrupt jaundice alongside a history of chronic dermatitis.
• Liver biopsy revealed characteristic dark-brown pigment with specific birefringence, indicative of EPP.

Findings:

• Elevated plasma total porphyrins and erythrocyte protoporphyrin confirmed the EPP diagnosis.
• Microscopic examination of the liver biopsy showed dense, dark-brown pigment in hepatocytes and Kupffer cells.
• Polarization microscopy revealed bright-red birefringence and Maltese crosses, pathognomonic for porphyrin deposition.

Implications:

• This case underscores the importance of considering EPP in pediatric patients with cholestatic liver disease and dermatitis.
• Increased awareness among pediatricians, hepatologists, and pathologists can improve early diagnosis of EPP.
• Recognizing EPP's varied presentations is crucial for timely and accurate diagnosis and management.