Porphyria

Porphyries are group of genetic disorders characterized by deficiency of enzymes involved in heme’s degradation which leads to storage of unmetabolized products in the body. Enzymatic deficiency is inherited, but exogenous factors like drugs, chemical substances, dietary mistakes or sunlight can substantially affect severity of symptoms depending on type of disease.

Types of porphyries have different clinical presentation (and treatment) but the most frequent manifestation is damage of CNS or skin lesions. The diagnosis of acute porphyry is made late frequently, because of non specific symptomatic.

More info about porphyries available at:

  • EpNet- European Porphyria Network: http://www.porphyria-europe.com/
  • Drugs which can cause acute porphyry: http://www.porphyria-europe.com/03-drugs/selecting-drug-unsafe.asp
  • American Porphyria Foundation: http://www.porphyriafoundation.com/
  • Patients telling about their disease in different languages  YouTube:

http://www.youtube.com/watch?v=boLUSGPd-yk