Title: An Extremely Rare Case of Congenital Erythropoietic Porphyria Diagnosed In Adulthood with Unusual Life Threatening Complications
Authors: Dr Sandhya Chauhan, Dr Meena Chauhan, Dr Ashok Garg, Dr GR Tegta
DOI: https://dx.doi.org/10.18535/jmscr/v5i5.06
Abstract
Congenital erythropoietic porphyria (CEP) is an autosomal recessive inborn error of heme synthesis that results from the markedly deficient activity of uroporphyrinogen III synthase (UROS). We describe a 44-year-old male with history of passing red urine since infancy, progressive blistering and scarring of the skin and severe hemolytic anemia. After years of skin damage, his face is mutilated; hands are deformed, he has scleromalacia and prominent areas of hypertrichosis and skin darkening. Patient presented to us in shock with severe anaemia and derangement of haepatorenal and coagulation profile. Uroporphyrin 1 and coproporphyin 1 levels were markedly raised in urine. Patient was stabilized with intravenous fluids, hematinics and blood transfusion. Inspite of conservative treatment and photoprotective measures patient’s lesions are progressing. Bone marrow transplantation and/or gene therapy are proposed as the next steps in his treatment.
Keywords: Congenital erythropoietic porphyria, Porphyrins, Anaemia, Scleromalacia.
References
1. Desnick RJ, Astrin KH. Congenital erythropoietic porphyria: advances in pathogenesis and treatment. Br J Haematol. 2002;117:779–95.
2. Gross U, Hoffmann GF, Doss MO. Erythropoietic and hepatic porphyrias. J Inherit Metab Dis 2000;23:641-61.
3. Howard M, Hall A, Ramsay D. Congenital erythropoietic porphyria (Gunther disease) - long-term follow up of a case and review. Dermatol Online J 2017;15:23(2).
4. Szlendak U, Bykowska K, Lipniacka A. Clinical, Biochemical and Molecular Characteristics of the Main Types of Porphyria. Adv Clin Exp Med 2016;25(2):361-68.
5. Agarwal S, Majumder PD, Srinivasan B, Iyer G. Scleral necrosis in congenital erythropoietic porphyria: A case report and review of the literature. Oman J Ophthalmol 2015;8:3.
6. Xu W, Warner CA, Desnick RJ. Cong-enital erythropoietic porphyria: identify-ication and expression of 10 mutations in the uroporphyrinogen III synthase gene. J Clin Invest 1995;95(2):905-12.
7. Christiansen AL, Aagaard L, Krag A, Rasmussen LM, Bygum A. Cutaneous Porphyrias: Causes, Symptoms, Treat-ments and the Danish Incidence 1989–2013. Acta Derm Venereol 2016;96(7):86-872.
8. Robert –Richard E, Moreau-Gaudry F, Lalanne M, Lamrissi-Garcia I, Cario-Andre M, Guyonnet-Dupe´rat V, et al. Effective Gene Therapy of Mice with Congenital Erythropoietic Porphyria Is Facilitated by a Survival Advantage of Corrected Erythroid Cells. Am J Hum Genet 2008;82(1):113-24.