010 Late onset congenital erythropoietic porphyria (Günther's disease)

Congenital erythropoietic porphyria is a rare autosomal recessive disease due to the deficient activity of uroporphyrinogen III synthase, the fourth enzyme in the porphyrin-heme synthetic pathway. Of the porphyrias, it is the most mutilating type, usually presenting early in life. We present a patient who developed skin fragility of sun-exposed skin and red urine at the age of 72 years. Porphyrin profile showed plasma maximum fluorescence at neutral pH of 617 nm. In plasma, urine and erythrocytes, the predominant porphyrins were uroporphyrin and coproporphyrin. In all specimens, isomer I predominated. Urine δ-aminolevulinic acid and porphobilinogen, and erythrocyte uroporphyrinogen decarboxylase levels were within nomal limits. These finding were consistent with congenital erythropoietic porphyria. Thrombocytopenia and myelodysplasia with bone-marrow sideroblasts were also incidentally discovered. Including our patient, only 12 cases of late onset congenital erythropoietic porphyria have been reported worldwide, with our patient being the oldest. Patients who develop late onset congenital erythropoietic porphyria develop less severe manifestations, possibly due to heterogeneous mutations in the defective enzyme. Of the 12 reported cases, seven had thrombocytopenia, six of which also had myelodysplasia.