Porphyria

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Contents 1 More Specific Terms 2 Introduction 3 Classification 4 Epidemiology 5 More General Terms 6 Additional Terms 7 References

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)

Introduction

• Derangement in porphyrin metabolism.

Classification

*                     Classification of porphyrias: 
*                           erythrocytic          hepatic 
*                            ----------    --------------------- 
*                            CEP    EPP    PCT    VP   IAP    HP 
* Inheritance                  AR     AD     AD    AD    AD    AD 
* Clinical manifestations: 
*  photosensitivity            +      +      +     +     -     + 
*  skin lesions                +      +      +     +     -     + 
*  abdominal pain              -      -      -     +     +     + 
*  neuropsychiatric symptoms   -      -      -     +     +     + 
* Laboratory: 
*  erythrocytes 
*    uroporphyrin             3+      N      N     N     N     N 
*    coproporphyrin           2+     1+      N     N     N     N 
*    protoporphyrin           1+     3+      N     N     N     N 
*  urine  
*    porphobilinogen           N      N      N   *3+   *3+    1+ 
*    uroporphyrin             3+      N     2+    3+    3+     N 
*  feces  
*    protoporphyrin           1+     2+      N    3+     N     N 
*    coproporphyrin           1+     1+      ?    1+     N    1+

• ----------------------------------------------------------------
• CEP: congenital erythropoietic porphyria
• EP: erythropoietic protoporphyria
• PCT: porphyria cutanea tarda
• VP: variegate porphyria
• IAP: 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

Epidemiology

• porphyria cutanea tarda is the most common porphyria [4]

More General Terms

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

Additional Terms

• heme synthesis

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: [1]
5. Porphyria: NIH Institute and Center Resources [2]

porphyria