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porphyria

Derangement in porphyrin metabolism. Classification: Classification of porphyrias: Feature CEP EP PCT VP AIP HP Inheritance AR AD AD AD AD AD Clinical manifestations: - - - - - - photosensitivity + + + + - + skin lesions + + + + - + abdominal pain - - - + + + neuropsychiatric symptoms - - - + + + Laboratory: - - - - - - erythrocytes - - - - - - RBC uroporphyrin 3+ N N N N N RBC coproporphyrin 2+ 1+ N N N N RBC protoporphyrin 1+ 3+ N N N N urine urine porphobilinogen N N N *3+ *3+ 1+ urine uroporphyrin 3+ N 2+ 3+ 3+ N feces fecal protoporphyrin 1+ 2+ N 3+ N N fecal coproporphyrin 1+ 1+ ? 1+ N 1+ ---------------------------------------------------------------- Erythrocytic porphyrias - CEP: congenital erythropoietic porphyria - EP: erythropoietic protoporphyria Hepatic porpyrias - PCT: porphyria cutanea tarda - VP: variegate porphyria - AIP: acute intermittent porphyria - HP: hereditary coproporphyria AR: autosomal recessive AD: autosomal dominant N: normal 3+: markedly increased *3+: markedly increased during attacks, normal in remission ---------------------------------------------------------------- - urine appearance: deep purple urine see ARUP consult [5]

Related

heme synthesis

Specific

acute intermittent porphyria (AIP); Swedish porphyria aminolevulinate (ALA) dehydratase deficiency pophyria; porphobilinogen (PBG) synthase deficiency porphyria congenital erythropoietic porphyria (CEP, Gunther's disease) erythropoietic protoporphyria (EPP) hereditary coproporphyria porphyria cutanea tarda (PCT) variegate porphyria (VP, mixed porphyria)

General

inborn error of metabolism skin disease (dermatologic disorder, dermatopathy, dermatosis)

References

  1. Color Atlas and Synopsis of Clinical Dermatology, Common and Serious Diseases, 3rd ed, Fitzpatrick et al, McGraw Hill, NY, 1997, pg 254
  2. Clinical Diagnosis & Management by Laboratory Methods, 19th edition, J.B. Henry (ed), W.B. Saunders Co., Philadelphia, PA. 1996, pg 172-73
  3. Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 2152-58
  4. Puy H et al. Porphyrias. Lancet 2010 Mar 13; 375:924 PMID: 20226990
  5. ARUP Consult: Porphyrias The Physician's Guide to Laboratory Test Selection & Interpretation https://arupconsult.com/content/porphyrias - Porphyrias Testing Algorithm https://arupconsult.com/algorithm/porphyrias-testing-algorithm
  6. Balwani M, Desnick RJ. The porphyrias: advances in diagnosis and treatment. Blood. 2012 Nov 29;120(23):4496-504 PMID: 22791288
  7. Bissell DM, Anderson KE, Bonkovsky HL. Porphyria. N Engl J Med 2017; 377:862-872. August 31, 2017 PMID: 28854095 http://www.nejm.org/doi/full/10.1056/NEJMra1608634
  8. Atalla AS, Palka J 12 Causes of Discolored Urine. Medscape. Nov 15, 2017 https://reference.medscape.com/slideshow/discolored-urine-6008332
  9. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) Porphyria https://www.niddk.nih.gov/health-information/liver-disease/porphyria