Porphyria

Porphyria facts*

*Porphyria facts medically edited by

  • Porphyria is a group of diseases that are due to the deficiency of one of the enzymes needed to make an important substance in the body called heme.
  • Porphyrias are often classified as acute or cutaneous. Acute types of porphyria affect the nervous system, whereas cutaneous types mainly affect the skin.
  • Most porphyrias are inherited disorders.
  • People with cutaneous forms of porphyria develop blisters, itching, and swelling of their skin when it is exposed to sunlight. Those with acute forms of porphyria develop numbness, tingling, paralysis, cramping, vomiting, constipation, personality changes or mental disorders, and/or pain in the abdomen, chest, limbs, or back.
  • Doctors diagnose porphyria using blood, urine, and stool tests.
  • Treatment may involve avoiding triggers, receiving heme through a vein, taking medicines to relieve symptoms, or having blood drawn to reduce iron in the body. People who have severe attacks may need to be hospitalized.
Medically Reviewed by a Doctor on 4/3/2014

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Definition of Porphyria Cutanea Tarda

Porphyria cutanea tarda: Literally, the late skin form of porphyria, a genetic photosensitive (light-sensitive) skin disease with onset in adult life with substances called uroporphyrins in the urine due to a deficiency of uroporphyrinogen decarboxylase (UROD), an enzyme required for the synthesis of heme (part of hemoglobin, the pigment in red blood cells that carries oxygen). The hallmarks of porphyria cutanea tarda (PCT) are blisters which become ulcerated in areas of the skin exposed to sunlight, especially on the face, ears and dorsum (back) of the hands. The affected areas of skin also tend to be fragile and show hyperpigmentation (excess pigment) and hypertrichosis (excess hair).

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