Photosensitivity and acute liver insufficiency in late-onset erythropoietic protoporphyria with a chromosome 18q abnormality.

[erythropoietic protoporphyria]

Late -onset erythropoietic protoporphyria (EPP ) is rare , and it is usually associated with an acquired somatic mutation of the ferrochelatase gene secondary to hematological malignancy such as myelodysplastic syndrome or myeloproliferative disorder . In 0 .5 -1 % of patients with EPP , deposition of protoporphyrin in the liver leads to progressive liver insufficiency . Herein , we report the case of a 67 -year -old female who developed EPP with typical photosensitivity and hemolytic anemia . Six months later , she was admitted with acute liver damage with a rapidly progressing course , and developed liver insufficiency . She recovered from the liver insufficiency after undergoing plasmapheresis and red blood cell exchange transfusion . A bone marrow examination revealed normal features ; however , a cytogenetic analysis identified an abnormal clone of cells with a translocation between chromosomes 13 q 12 and 18 q 21 .1 . This is the first report of a patient who recovered from liver insufficiency . The results of this report suggest that plasmapheresis and red blood cell exchange transfusion are effective for treating liver insufficiency in patients with late-onset EPP .