Congenital Erythropoietic Porphyria: Complete Resolution of Symptoms Following Allogeneic Stem Cell Transplant

Case Report

Ann Hematol Oncol. 2019; 6(5): 1246.

Congenital Erythropoietic Porphyria: Complete Resolution of Symptoms Following Allogeneic Stem Cell Transplant

Iftikhar R1*, Shamshad UG1, Akram Z1, Ghafoor T2, Satti MT1, Chaudhry QN1 and Mahmood KS1

1Department of Clinical Hematology, Armed forces Bone Marrow Transplant Centre, Rawalpindi Pakistan

2Department of Pediatrics, Armed forces Bone Marrow Transplant Centre, Rawalpindi Pakistan

*Corresponding author: Raheel Iftikhar, Armed forces Bone Marrow Transplant Centre, Rawalpindi Pakistan

Received: February 11, 2019; Accepted: March 14, 2019;Published: March 21, 2019

Abstract

Congenital Erythropoietic Porphyria (CEP) is a rare inherited disorder mainly due to a defect in Uroporphyrinogen III Synthase (UROS), an enzyme that is involved in heme synthesis [1-3]. As a result elevated levels of uroporphyrin I and coproporphyrin I accumulate in red cells, plasma, feces, urine, teeth and bones leading to oxidative damage on exposure to sunlight [4]. The affected patients develop hemolytic anemia, severe cutaneous photosensitivity, reddish discoloration of urine and brownish discoloration of teeth [5]. In mild cases the treatment is generally supportive like avoidance of sun-exposure to eyes and skin. Red cell transfusions may be needed for correction of anemia. In severe cases, allogeneic stem cell transplant remains the only curative option4 however; significant mortality and morbidity are important concerns. We describe the case of a 4-year-old girl presenting with severely symptomatic CEP, who underwent an allogeneic stem cell transplant from a matched sibling donor that resulted in complete resolution of her symptoms.

Keywords: Congenital erythropoietic porphyria; Photosensitivity; Allogeneic stem cell transplant

Case Presentation

A 4 year old girl belonging to Himalayan region of Pakistan presented to our institute in August 2017 with history of passing reddish urine soon after birth. She had been reviewed by a general practitioner initially and was diagnosed to have hematuria. She had also been reviewed by different paediatricians but no diagnosis could be established. Later her parents noticed brownish discoloration of erupted teeth, skin blistering and scarring on exposure to sunlight. She gradually developed progressive lethargy, pallor and yellowish discoloration of sclera.

She was than referred to Armed Forces Bone Marrow Transplant Centre (AFBMTC) with suspicion of haemolytic anemia. On examination she was pale with generalized hypertrichosis, erythrodontia, blistering and scarring of skin on sun exposed areas (Figure 1) and mild splenomegaly. Her urine had a reddish appearance but was negative for RBCs on microscopy. She had haemoglobin of 90 g/L alongwith reticulocytosis (6%), indirect hyperbilirubinemia and elevated serum lactate dehydrogenase level. Her Coombs antiglobulin test was negative.

Citation: Iftikhar R, Shamshad UG, Akram Z, Ghafoor T, Satti MT, Chaudhry QN, et al. Congenital Erythropoietic Porphyria: Complete Resolution of Symptoms Following Allogeneic Stem Cell Transplant. Ann Hematol Oncol. 2019; 6(5): 1246.