Porphyria: Symptoms & Signs

Medically Reviewed on 1/16/2020

Porphyria is a group of a number of diseases characterized by a deficiency in one of the enzymes needed to make heme, which contains iron and is an important component of hemoglobin in the bloodstream.

Porphyrias are often classified as acute or cutaneous. Acute types of porphyria affect the nervous system, whereas cutaneous types mainly affect the skin. Signs and associated symptoms are different for the two. Symptoms of cutaneous forms of porphyria include

  • itching,
  • skin blisters, and
  • swelling of the skin when it is exposed to sunlight.

Symptoms of acute forms of porphyria can include

  • numbness,
  • tingling,
  • paralysis,
  • vomiting,
  • constipation,
  • cramping,
  • seizures,
  • muscle weakness
  • personality changes or mental disorders, and
  • pain in the abdomen, chest, limbs, or back.

Cause of porphyria

The cause of most porphyrias is an inherited genetic mutation that leads to a deficiency in one of the enzymes needed to produce heme.

Other porphyria symptoms and signs

  • Constipation
  • Cramping
  • Itching
  • Numbness
  • Pain in the Abdomen, Chest, Limbs, or Back
  • Paralysis
  • Personality Changes or Mental Disorders
  • Skin Blisters
  • Swelling of the Skin When It Is Exposed to Sunlight
  • Tingling
  • Vomiting

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Jameson, J. Larry, et al. Harrison's Principles of Internal Medicine, 20th Ed. New York: McGraw-Hill Education, 2018.