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

Abstract

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 13q12 and 18q21.1. 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.

Keywords: Hematological abnormality; Liver damage; Plasmapheresis; Red blood cell exchange.

Fig. 1

Patient's face (a) and forearms and hands (b) showing swelling and slight sclerosis accompanied by erythema and pigmentation.

Fig. 2

Bone marrow cytogenetic analysis revealed a translocation between chromosomes 13q12 and 18q21.1.

Fig. 3

Clinical course of the patient. AST = Aspartate transaminase; ALT = alanine transaminase; Hb = hemoglobin; T-Bil = total-bilirubin.