porphyria
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Introduction
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+ |
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
More general terms
More specific terms
- 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)
Additional terms
References
- ↑ Color Atlas and Synopsis of Clinical Dermatology, Common and Serious Diseases, 3rd ed, Fitzpatrick et al, McGraw Hill, NY, 1997, pg 254
- ↑ Clinical Diagnosis & Management by Laboratory Methods, 19th edition, J.B. Henry (ed), W.B. Saunders Co., Philadelphia, PA. 1996, pg 172-73
- ↑ Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 2152-58
- ↑ Puy H et al. Porphyrias. Lancet 2010 Mar 13; 375:924 PMID: https://www.ncbi.nlm.nih.gov/pubmed/20226990
- ↑ 5.0 5.1 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 - ↑ Balwani M, Desnick RJ. The porphyrias: advances in diagnosis and treatment. Blood. 2012 Nov 29;120(23):4496-504 PMID: https://www.ncbi.nlm.nih.gov/pubmed/22791288
- ↑ Bissell DM, Anderson KE, Bonkovsky HL. Porphyria. N Engl J Med 2017; 377:862-872. August 31, 2017 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/28854095 <Internet> http://www.nejm.org/doi/full/10.1056/NEJMra1608634
- ↑ Atalla AS, Palka J 12 Causes of Discolored Urine. Medscape. Nov 15, 2017 https://reference.medscape.com/slideshow/discolored-urine-6008332
- ↑ National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) Porphyria https://www.niddk.nih.gov/health-information/liver-disease/porphyria