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Variegate Porphyria Differential Diagnoses

  • Author: Maureen B Poh-Fitzpatrick, MD; Chief Editor: Dirk M Elston, MD  more...
 
Updated: Apr 15, 2016
 
 

Diagnostic Considerations

Misdiagnosis of symptomatic variegate porphyria as porphyria cutanea tarda may lead to inappropriate treatment with phlebotomy or antimalarial therapies that are ineffective. This may also lead to failure to advise patients correctly about avoiding inducers of life-threatening attacks. Establishment of a complete profile of porphyrins and porphyrin precursors present in urine, feces, and blood should enable diagnostic distinction in most cases.

Other considerations include the following:

  • Hereditary coproporphyria
  • Acute intermittent porphyria
  • Landry-Guillain-Barré syndrome

Differential Diagnoses

 
 
Contributor Information and Disclosures
Author

Maureen B Poh-Fitzpatrick, MD Professor Emerita of Dermatology and Special Lecturer, Columbia University College of Physicians and Surgeons

Maureen B Poh-Fitzpatrick, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, New York Academy of Medicine, New York Dermatological Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Richard P Vinson, MD Assistant Clinical Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine; Consulting Staff, Mountain View Dermatology, PA

Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Texas Medical Association, Association of Military Dermatologists, Texas Dermatological Society

Disclosure: Nothing to disclose.

Julia R Nunley, MD Professor, Program Director, Dermatology Residency, Department of Dermatology, Virginia Commonwealth University Medical Center

Julia R Nunley, MD is a member of the following medical societies: American Academy of Dermatology, American College of Physicians, American Society of Nephrology, International Society of Nephrology, Medical Dermatology Society, Medical Society of Virginia, National Kidney Foundation, Phi Beta Kappa, Women's Dermatologic Society

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: American Board of Dermatology<br/>Co-Editor for the text Dermatological Manifestations of Kidney Disease .

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

David Timothy Woodley, MD Professor and Chair, Department of Dermatology, Keck School of Medicine of the University of Southern California

David Timothy Woodley, MD is a member of the following medical societies: American Academy of Dermatology, American Association for the Advancement of Science, American College of Emergency Physicians, American College of Physicians, American Federation for Medical Research, American Society for Clinical Investigation, New York Academy of Medicine, Society for Investigative Dermatology, Southern Medical Association

Disclosure: Received consulting fee from Shire Pharmaceuticals for consulting.

References
  1. Brenner DA, Bloomer JR. The enzymatic defect in variegate prophyria. Studies with human cultured skin fibroblasts. N Engl J Med. 1980 Apr 3. 302(14):765-9. [Medline].

  2. Meissner PN, Day RS, Moore MR, Disler PB, Harley E. Protoporphyrinogen oxidase and porphobilinogen deaminase in variegate porphyria. Eur J Clin Invest. 1986 Jun. 16(3):257-61. [Medline].

  3. Kirsch RE, Meissner PN, Hift RJ. Variegate porphyria. Semin Liver Dis. 1998. 18(1):33-41. [Medline].

  4. Whatley SD, Puy H, Morgan RR, et al. Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation. Am J Hum Genet. 1999 Oct. 65(4):984-94. [Medline].

  5. Eales L, Day RS, Blekkenhorst GH. The clinical and biochemical features of variegate porphyria: an analysis of 300 cases studied at Groote Schuur Hospital, Cape Town. Int J Biochem. 1980. 12(5-6):837-53. [Medline].

  6. Mustajoki P. Variegate porphyria. Twelve years' experience in Finland. Q J Med. 1980 Spring. 49(194):191-203. [Medline].

  7. Bonkowsky HL, Schady W. Neurologic manifestations of acute porphyria. Semin Liver Dis. 1982 May. 2(2):108-24. [Medline].

  8. Bonkovsky HL, Barnard GF. The Porphyrias. Curr Treat Options Gastroenterol. 2000 Dec. 3(6):487-500. [Medline].

  9. Meissner P, Adams P, Kirsch R. Allosteric inhibition of human lymphoblast and purified porphobilinogen deaminase by protoporphyrinogen and coproporphyrinogen. A possible mechanism for the acute attack of variegate porphyria. J Clin Invest. 1993 Apr. 91(4):1436-44. [Medline].

  10. Meyer UA, Schuurmans MM, Lindberg RL. Acute porphyrias: pathogenesis of neurological manifestations. Semin Liver Dis. 1998. 18(1):43-52. [Medline].

  11. Dean G. The porphyrias. A story of inheritance and environment. London: Pitman Medical; 1971. 2nd ed.

  12. Meissner PN, Dailey TA, Hift RJ, Ziman M, Corrigall AV, Roberts AG. A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria. Nat Genet. 1996 May. 13(1):95-7. [Medline].

  13. van Serooskerken AM, Ernst M, Bladergroen RS, Wolff C, Floderus Y, Harper P. A recurrent mutation in variegate porphyria patients from Chile and Sweden: Evidence for a common genetic background?. J Dermatol Sci. 2011 Jan. 61(1):75-7. [Medline].

  14. Frank J, Alta VM, Ahmad W, Lam H, Wolff C, Christiano AM. Identification of a Founder Mutation in the Protoporphyrinogen Oxidase Gene in Variegate Porphyria Patients from Chile. Human Heredity. 2001. 51:160-8.

  15. Elder G, Harper P, Badminton M, Sandberg S, Deybach JC. The incidence of inherited porphyrias in Europe. J Inherit Metab Dis. 2012 Nov 1. [Medline].

  16. Mustajoki P, Tenhunen R, Niemi KM, Nordmann Y, Kaariainen H, Norio R. Homozygous variegate porphyria. A severe skin disease of infancy. Clin Genet. 1987 Nov. 32(5):300-5. [Medline].

  17. Corrigall AV, Hift RJ, Davids LM, et al. Homozygous variegate porphyria in South Africa: genotypic analysis in two cases. Mol Genet Metab. 2000 Apr. 69(4):323-30. [Medline].

  18. Hift RJ, Meissner PN. An analysis of 112 acute porphyric attacks in Cape Town, South Africa: Evidence that acute intermittent porphyria and variegate porphyria differ in susceptibility and severity. Medicine (Baltimore). 2005 Jan. 84(1):48-60. [Medline].

  19. von und zu Fraunberg M, Timonen K, Mustajoki P, Kauppinen R. Clinical and biochemical characteristics and genotype-phenotype correlation in Finnish variegate porphyria patients. Eur J Hum Genet. 2002 Oct. 10(10):649-57. [Medline].

  20. Hift RJ, Meissner D, Meissner PN. A systematic study of the clinical and biochemical expression of variegate porphyria in a large South African family. Br J Dermatol. 2004 Aug. 151(2):465-71. [Medline].

  21. Korda V, Deybach JC, Martasek P, et al. Homozygous variegate porphyria. Lancet. 1984 Apr 14. 1(8381):851. [Medline].

  22. Hift RJ, Meissner PN, Todd G, et al. Homozygous variegate porphyria: an evolving clinical syndrome. Postgrad Med J. 1993 Oct. 69(816):781-6. [Medline].

  23. Sassa S. Modern diagnosis and management of the porphyrias. Br J Haematol. 2006 Nov. 135(3):281-92. [Medline].

  24. Zaider E, Bickers DR. Clinical laboratory methods for diagnosis of the porphyrias. Clin Dermatol. 1998 Mar-Apr. 16(2):277-93. [Medline].

  25. Singal AK, Anderson KE. Variegate porphyria. GeneReviews - NCBI Bookshelf. Feb 14, 2013. [Medline]. [Full Text].

  26. Hift RJ, Davidson BP, van der Hooft C, Meissner DM, Meissner PN. Plasma fluorescence scanning and fecal porphyrin analysis for the diagnosis of variegate porphyria: precise determination of sensitivity and specificity with detection of protoporphyrinogen oxidase mutations as a reference standard. Clin Chem. 2004 May. 50(5):915-23. [Medline].

  27. Kühnel A, Gross U, Jacob K, Doss MO. Studies on coproporphyrin isomers in urine and feces in the porphyrias. Clin Chim Acta. 1999 Apr. 282 (1-2):45-58. [Medline].

  28. Poh-Fitzpatrick MB. A plasma porphyrin fluorescence marker for variegate porphyria. Arch Dermatol. 1980 May. 116(5):543-7. [Medline].

  29. Logan GM, Weimer MK, Ellefson M, Pierach CA, Bloomer JR. Bile porphyrin analysis in the evaluation of variegate porphyria. N Engl J Med. 1991 May 16. 324(20):1408-11. [Medline].

  30. Epstein JH, Tuffanelli DL, Epstein WL. Cutaneous changes in the porphyrias. A microscopic study. Arch Dermatol. 1973 May. 107(5):689-98. [Medline].

  31. Timonen K, Niemi KM, Mustajoki P, Tenhunen R. Skin changes in variegate porphyria. Clinical, histopathological, and ultrastructural study. Arch Dermatol Res. 1990. 282(2):108-14. [Medline].

  32. Anderson KE, Bloomer JR, Bonkovsky HL, et al. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med. 2005 Mar 15. 142(6):439-50. [Medline].

  33. Kalman DR, Bonkovsky HL. Management of acute attacks in the porphyrias. Clin Dermatol. 1998 Mar-Apr. 16(2):299-306. [Medline].

  34. Findley H, Philips A, Cole D, Nair A. Porphyrias: implications for anaesthesia, critical care, and pain medicine. Oxford Journals. Available at http://ceaccp.oxfordjournals.org/content/early/2012/02/27/bjaceaccp.mks009.full. February 27, 2012; Accessed: April 8, 2016.

  35. Pischik E, Kauppinen R. An update of clinical management of acute intermittent porphyria. Appl Clin Genet. 2015. 8:201-14. [Medline].

  36. Tschudy DP, Welland FH, Collins A, Hunter G Jr. The effect of carbohydrate feeding on the induction of delta-aminolevulinic acid synthatase. Metabolism. 1964 May. 13:396-406. [Medline].

  37. Bonkovsky HL, Healey JF, Lourie AN, Gerron GG. Intravenous heme-albumin in acute intermittent porphyria: evidence for repletion of hepatic hemoproteins and regulatory heme pools. Am J Gastroenterol. 1991 Aug. 86(8):1050-6. [Medline].

  38. Anderson KE, Spitz IM, Sassa S, Bardin CW, Kappas A. Prevention of cyclical attacks of acute intermittent porphyria with a long-acting agonist of luteinizing hormone-releasing hormone. N Engl J Med. 1984 Sep 6. 311(10):643-5. [Medline].

  39. Stojeba N, Meyer C, Jeanpierre C, et al. Recovery from a variegate porphyria by a liver transplantation. Liver Transpl. 2004 Jul. 10(7):935-8. [Medline].

  40. Church SE, McColl KE, Moore MR, Youngs GR. Hypertension and renal impairment as complications of acute porphyria. Nephrol Dial Transplant. 1992. 7 (10):986-90. [Medline].

  41. Schneider-Yin X, van Tuyll van Serooskerken AM, Went P, Tyblewski W, Poblete-Gutiérrez P, Minder EI. Hepatocellular carcinoma in variegate porphyria: a serious complication. Acta Derm Venereol. 2010 Sep. 90(5):512-5. [Medline].

  42. Luvai A, Mbagaya W, Narayanan D, Degg T, Toogood G, Wyatt JI, et al. Hepatocellular carcinoma in variegate porphyria: a case report and literature review. Ann Clin Biochem. 2015 May. 52 (Pt 3):407-12. [Medline].

  43. Herrick AL, Moore MR, Thompson GG, Ford GP, McColl KE. Cholelithiasis in patients with variegate porphyria. J Hepatol. 1991 Jan. 12 (1):50-3. [Medline].

  44. Muraldihar A, Vikram RS, Pechtor K, Howell MR. Recurrent variegate porphyria in a pregnant woman. Journal of Obstetrics and Gynaecology. 2006. 8:809-824.

  45. Wolff C, Merino RA. Porfiria y embarazo. Rev Med Chile. 2008. 136:151-156.

  46. Marsden JT, Rees DC. A retrospective analysis of outcome of pregnancy in patients with acute porphyria. J Inherit Metab Dis. 2010 Oct. 33(5):591-6. [Medline].

  47. Badminton MN, Deybach JC. Treatment of an acute attack of porphyria during pregnancy. Eur J Neurol. 2006 Jun. 13 (6):668-9. [Medline].

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