Early presentation of adult-onset conditions: A dual diagnosis of hereditary hemochromatosis and porphyria cutanea tarda

Abstract

Asymptomatic aminotransferase elevation has a broad differential in the pediatric population. We report an 11-year old male with a history of urine discoloration found to have persistently elevated aminotransferases. Biochemical evaluation was notable for elevated uroporphyrin, consistent with porphyria cutanea tarda (PCT). Genetic testing revealed biallelic pathogenic variants in HFE and a pathogenic variant in UROD, consistent with a diagnosis of hereditary hemochromatosis (HHC) and PCT, respectively. Dual diagnosis likely explains the pediatric onset of these typically adult-onset conditions.

Keywords

• Porphyria
• Hemochromatosis
• Elevated aminotransferases
• Iron-overload
• Trisomy 21