Congenital erythropoietic porphyria associated with myelodysplasia presenting in a 72-year-old man: report of a case and review of the literature.

Abstract

Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disease owing to the deficient activity of uroporphyrinogen III synthase, the fourth enzyme in the porphyrin-haem synthetic pathway. Of the porphyrias, it is the most mutilating type, usually presenting early in life. To date, 12 documented cases of adult onset CEP have been reported. We report the second oldest documented patient with late onset CEP with incidental findings of thrombocytopenia and myelodysplasia with bone-marrow sideroblasts. We further discuss several current and future treatment options for this therapeutically challenging disease.