Porphyria cutanea tarda in hemodialysis patients: review and a case report
https://doi.org/10.28996/2618-9801-2018-2-230-243
Abstract
Porphyria cutanea tarda (PCT) and pseudoporphyria are most frequent photosensitive vesiculobullous skin disorder in hemodialysis patients. PCT is a disorder in the heme biosynthesis that results from a reduction in the activity of the hepatic enzyme uroporphyrinogen decarboxylase (URO-D). The abnormal heme biosynthesis produces a pathogenic accumulation of intermediary metabolites (porphyrins) in the liver, plasma and skin. The symptoms of PCT occur because of the accumulation of photosensitizing porphyrins in the skin. In patients receiving dialysis, PCT has several linked pathogenic mechanisms. The most relevant factors are viral hepatitis C, hepatic iron overload and impaired clearance of porphyrins. Diagnosis of PCT is established by identification of characteristic symptoms and finding a substantial elevation in the level of porphyrins in plasma; fecal porphyrins are also increased. Primary management of PCT involves removing susceptibility factors, depletion of iron stores, and reducing porphyrin levels in the liver and blood. We report a case of PCT that developed in a patient on maintenance HD for 8.5 years; 2 more exacerbations were observed in the next 7.5 years. The diagnosis of PCT was confirmed by the detection of a substantial elevation of porphyrins in plasma. The relationship between exacerbations with viral hepatitis C activity, iron levels was not always observed. Because of comorbidity, therapeutic phlebotomy was problematic and treatment modality was combination of hydroxychloroquine and haemodiafiltration.
About the Authors
L. I. Anikonova
State Institute of higher education “Mechnikov North-Western State Medical University”
Russian Federation
Russian Federation
V. Y. Ryasnyanskiy
State Institute of higher education “Mechnikov North-Western State Medical University”
Russian Federation
Russian Federation
G. D. Shostka
State Institute of higher education “Mechnikov North-Western State Medical University”
Russian Federation
Russian Federation
D. V. Pavlenko
State Institute of higher education “Mechnikov North-Western State Medical University”
Russian Federation
Russian Federation
References
1. Anderson KE, Bishop DF, Desnick RJ. Disorders of heme biosynthesis: X-linked sideroblastic anemias and the porphyrias. In: Scriver CR, Beaudet AL, Sly WS, et al., eds. The Metabolic and Molecular Basis of Inherited Disease. NewYork, NY: McGraw-Hill; 2001; 2991-3062.
2. Balwani M, Desnick RJ. The porphyrias: advances in diagnosis and treatment. Blood. 2012; 120: 4496-4504
3. Elder GH: Porphyria cutanea tarda and related disorders, in Porphyrin Handbook, Part II, edited by Kadish KM, Smith K, Guilard R. Academic Press, San Diego, 2003. Р 67.
4. DeWitt C.A., Trapp K.M., Muszynski M.A. (2015) Blistering Disorders (Porphyria Cutanea Tarda and Pseudoporphyria). In: Nunley J., Lerma E. (eds) Dermatological Manifestations of Kidney Disease. Springer, New York, NY
5. Phillips JD, Anderson KE. The Porphyrias. In: Kaushansky K, Lichtman МA, Prchal JT, Levi MM, Press OW, Burns LJ, Caligiuri MA, eds. Williams Hematology. 9th ed. New York: McGraw-Hill Medical; 2017.
6. Porphyria Cutanea Tarda (PCT). American Porphyria Foundation. http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/PCT. Accessed 3/8/2016.
7. Cordova KB, Oberg TJ, Malik M, Robinson-Bostom L. Dermatologic conditions seen in end-stage renal disease. Semin Dial. 2009; 22(1):45-55
8. Robinson-Bostom L, DiGiovanna JJ. Cutaneous manifestations of end-stage renal disease. J Am Acad Dermatol. 2000; 43(6):975-86
9. Lambrecht RW, Thapar M, Bonkovsky HL. Genetic aspects of porphyria cutanea tarda. Semin Liver Dis 2007; 27: 99-108.
10. Phillips JD, Bergonia HA, Reilly CA, Franklin MR, Kushner JP. A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda. Proc Natl Acad Sci U S A. 2007; 104(12):5079-5084.
11. Bonkovsky HL, Lambrecht RW, Shan Y. Iron as a co-morbid factor in nonhemochromatotic liver disease. Alcohol. 2003; 30(2):137-44
12. Ryan Caballes F, Sendi H, Bonkovsky HL. Hepatitis C, porphyria cutanea tarda and liver iron: an update. Liver Int. 2012; 32(6):880-893.
13. Ajioka RS, Phillips JD, Weiss RB, et al. Down-regulation of hepcidin in porphyria cutanea tarda. Blood. 2008; Dec 1. 112(12):4723-8.
14. Bygum A, Christiansen L, Petersen NE, et al. Familial and sporadic porphyria cutanea tarda: clinical, biochemical and genetic features with emphasis on iron status. Acta Derm Venereol. 2003; 83(2):115-20.
15. Roberts AG, Whatley SD, Nicklin S et al.: The frequency of hemochromatosisassociated alleles is increased in British patients with sporadic porphyria cutanea tarda. Hepatology 1997; 25(1):159.
16. Young LC. Porphyria cutanea tarda associated with Cys282Tyr mutation in HFE gene in he-reditary hemochromatosis: a case report and review of the literature. Cutis. 2007; 80:415-418.
17. Jalil S, Grady JJ, Lee C, Anderson KE. Associations among behavior-related susceptibility factors in porphyria cutanea tarda. Clin Gastroenterol Hepatol. 2010; 8(3):297-302
18. Egger NG, Goeger DE, Payne DA, et al. Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase defi-ciency. Dig Dis Sci.2002; 47(2):419-426.
19. Sams H, Kiripolsky MG, Bhat L, Stricklin GP. Porphyria cutanea tarda, hepatitis C, alcohol-ism, and hemochromatosis: a case report and review of the literature. Cutis. 2004; 73:188-190.
20. Huang YC. Porphyria cutanea tarda in a hemodialysis patient. QJM. 2013; 106(6):591-2.
21. Talmaci L, Davenport A, Burns A. The case. A blistering problem in a hemodialysis patient. Kidney Int. 2010; 78 (11):1195-6.
22. Labidi J. Porphyria cutanea tarda in a chronic hemodialysis patient. Saudi J Kidney Dis Transpl. 2010; 21(5):919-22.
23. Tarwater K, Misra S, Misra M. Type I (sporadic) porphyria cutanea tarda in a hemodialysis patient: a case report. Hemodial Int. 2008; 12 Suppl 2:S38-42.
24. Anderson KE, Goeger DE, Carson RW, et al. Erythropoietin for the treatment of porphyria cutanea tarda in a patient on long-term hemodialysis. N Engl J Med. 1990; 322(5):315-7.
25. Köstler E and Wollina U. Therapy of porphyria cutanea tarda. Expert Opin. Pharmacother. 2005; 6(3):377-383
26. Ryali ME, Whittier WL. Bullous skin lesions in a patient undergoing chronic hemodialysis. Semin Dial. 2010; 23(1):83-7.
27. Markova A, Lester J, Wang J, Robinson-Bostom L. Diagnosis of common dermopathies in dialysis patients: a review and update. Semin Dial. 2012; 25(4):408-18.
28. Topi GC, Alessandro GL, Cancarini GC, et al. Porphyria cutanea tarda in a haemodialysed patient. Br J Dermatol. 1981; 104(5):579-80
29. Frank J, Poblete-Gutiérrez P. Porphyria cutanea tarda-when skin meets liver. Best Pract Res Clin Gastroenterol. 2010; 24(5):735-45
30. Munoz-Santos C, Guilabert A, Moreno N, et al. Familial and sporadic porphyria cutanea tarda: clinical and biochemical features and risk factors in 152 patients. Medicine (Baltimore). 2010; 89(2):69-74.
31. Murphy GM. The cutaneous porphyrias: a review. The British Photodermatology Group. Br J Dermatol. 1999; 140(4):573-81
32. Gisbert JP, Garcia-Buey L, Alonso A, et al. Hepatocellular carcinoma risk in patients with porphyria cutanea tarda. Eur J Gastroenterol Hepatol. 2004; 16(7):689-92
33. Lee KG, Hyun JJ, Seo YS, Keum B, et al. Liver cirrhosis induced by porphyria cutanea tarda: a case report and review. Gut Liver. 2010;4(4):551-5.
34. Suarez SM, Cohen PR, DeLeo VA. Bullous photosensitivity to naproxen: “Pseudoporphyria” Arthritis Rheum. 1990; 33:903-8.
35. Porphyrias Consortium. Diagnosis of the Porphyrias. rarediseasesnetwork.org.
36. Hamzi MA, Alayoud A, Asseraji M, et al. Porphyria cutanea tarda in a hemodialysis patient with hepatitis C virus: efficacy of treatment with multiple phlebotomies and erythropoietin. Saudi J Kidney Dis Transpl. 2013; 24(1):121-3.
37. Shieh S, Cohen JL, Lim HW. Management of porphyria cutanea tarda in the setting of chronic renal failure: a case report and review. J Am Acad Dermatol. 2000; 42(4):645-52
38. Riccioni N, Donati G, Soldani S, et al. Treatment of hemodialysis-related porphyria cutanea tarda with small repeated phlebotomies. Nephron.1987; 46(2): 125-7.
39. Peces R, Enriquez de Salamanca R, Fontanellas A, et al. Successful treatment of haemodi-alysis-related porphyria cutanea tarda with erythropoietin. Nephrol Dial Transplant. 1994; 9(4):433-5.
40. Pitche P, Corrin E, Wolkenstein P, et al. Successful treatment of haemodialysis-related por-phyria cutanea tarda with deferoxamine. Ann Dermatol Venereol. 2003; 130(1 Pt 1):37-9.
41. Rodrigues N, Caeiro F, Santana A, Mendes T, Lopes L. Porphyria Cutanea Tarda in a Patient with End-Stage Renal Disease: A Case of Successful Treatment with Deferoxamine and Fer-ric Carboxymaltose. Case Rep Nephrol. 2017; 2017:4591871
42. Singal AK, Kormos-Hallberg C, Lee C, et al. Low-dose hydroxychloroquine is as effective as phlebotomy in treatment of patients with porphyria cutanea tarda. Clin. Gastroenterol. Hepatol. Dec 2012; 10(12):1402-1409.
43. Stolzel U, Kostler E, Schuppan D et al. Hemochromatosis (HFE) gene mutations and response to chloroquine in porphyria cutanea tarda. Arch Dermatol 139(3):309, 2003.
44. Carson RW, Dunnigan EJ, DuBose Jr TD, et al. Removal of plasma porphyrins with high-flux hemodialysis in porphyria cutanea tarda associated with end-stage renal disease. J Am Soc Nephrol. 1992;2(9):1445-50
45. Монахов С.А. Поздняя кожная порфирия. Рос. журн. кож. и вен. бол. 2002; № 5. С. 83-85
46. Кривошеев А.Б., Кривошеев Б.Н. Противовирусная терапия поздней кожной порфирии, ассоциированной с хроническим вирусным гепатитом С. Рос. журн. кож. и вен. бол. 2009. № 2. С. 39-45
47. Добрица В.П., Леонтьева Н.В., Радченко В.П и др. Профилактика заболеваний внут-ренних органов. Под ред. В.Г. Радченко. Санкт-Петербург, 2016; - 400 с.
48. Rostoker G, Griuncelli M, Loridon C, et al. Reassessment of Iron Biomarkers for Prediction of Dialysis Iron Overload: An MRI Study. Barretti P, ed. PLoS ONE. 2015;10(7):e0132006. doi:10.1371/journal.pone.0132006.
49. Rostoker G, Griuncelli M, Loridon C, et al. Maximal Standard Dose of Parenteral Iron for Hemodialysis Patients: An MRI-Based Decision Tree Learning Analysis. Liu C-H, ed. PLoS ONE. 2014; 9(12):e115096. doi:10.1371/journal.pone.0115096
50. Сабурова Г.С. Клинико-морфологические особенности течения первичного гемохро-матоза, диагностика и лечение. Автореферат диссертации на соискание ученой степени кандидата медицинских наук. Санкт-Петербург, 2001; - 19с.
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For citations:
Anikonova L.I., Ryasnyanskiy V.Y., Shostka G.D., Pavlenko D.V. Porphyria cutanea tarda in hemodialysis patients: review and a case report. Nephrology and Dialysis. 2018;20(2):230-243. (In Russ.) https://doi.org/10.28996/2618-9801-2018-2-230-243
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