Porphyria refers to a group of disorders that result from a buildup of natural chemicals that produce porphyrin in your body. Porphyrins are essential for the function of hemoglobin — a protein in your red blood cells that links to porphyrin, binds iron, and carries oxygen to your organs and tissues. High levels of porphyrins can cause significant problems. Porphyrias are also a group of blood conditions caused by a lack of an enzyme in the body that makes heme, an important molecule that carries oxygen throughout the body and is vital for all of the body’s organs. Major types include ALAD deficiency porphyria, acute intermittent porphyria, congenital erythropoietic porphyria, erythropoietic protoporphyria, hepatoerythropoietic porphyria, hereditary coproporphyria, porphyria cutanea tarda, and variegate porphyria. The most common type of porphyria is porphyria cutanea tarda. Some of the symptoms of porphyria include blistering, swelling, and itching when the skin is exposed to sun. Other symptoms may also include pain, numbness or tingling, vomiting, constipation, and intellectual disability. There is no known cure for porphyria, but the various types have different courses of treatment, and may include bone marrow transplant.

Symptoms of porphyria can vary widely in severity, by type and among individuals. Some people with the gene mutations that cause porphyria never have any symptoms. Acute porphyrias include forms of the disease that typically cause nervous system symptoms, which appear quickly and can be severe. Symptoms may last days to weeks and usually improve slowly after the attack. Acute intermittent porphyria is the common form of acute porphyria. Signs and symptoms of acute porphyria may include:

  • Severe abdominal pain
  • Pain in your chest, legs or back
  • Mental changes, such as anxiety, confusion, hallucinations, disorientation or paranoia
  • Breathing problems
  • Urination problems
  • Constipation or diarrhea
  • Nausea and vomiting
  • Muscle pain, tingling, numbness, weakness or paralysis
  • Red or brown urine
  • Rapid or irregular heartbeats you can feel (palpitations)
  • High blood pressure
  • Seizures

Contact the Genetic and Rare Diseases (GARD) Information Center for more information on Porphyria .