There are two general categories of porphyria — acute, which mainly affects the nervous system, and cutaneous, which mainly affects the skin. Some types of porphyria have both nervous system symptoms and skin symptoms, and others have mainly one or the other.

Acute porphyrias

Acute porphyrias include forms of the disease that typically cause nervous system symptoms, which appear quickly and can be life-threatening. Acute porphyria attacks are rare before puberty and after menopause in women. Symptoms may last one to two weeks and usually improve slowly after the attack.

Possible signs and symptoms of acute porphyria include:

  • Severe abdominal pain
  • Swelling of the abdomen (abdominal distention)
  • Pain in your chest, legs or back
  • Constipation or diarrhea
  • Vomiting
  • Insomnia
  • Heartbeat you can feel (palpitations)
  • High blood pressure
  • Anxiety or restlessness
  • Seizures
  • Mental changes, such as confusion, hallucinations, disorientation or paranoia
  • Breathing problems
  • Muscle pain, tingling, numbness, weakness or paralysis
  • Red or brown urine

Cutaneous porphyrias

Cutaneous porphyrias include forms of the disease that cause skin symptoms as a result of oversensitivity to sunlight, but these forms don't usually affect your nervous system. Attacks may last for several days. With some forms, signs and symptoms may start during infancy or childhood.

As a result of sun exposure, you may experience:

  • Sensitivity to the sun and sometimes artificial light, causing burning pain
  • Sudden painful skin redness (erythema) and swelling (edema)
  • Blisters that take weeks to heal
  • Itching
  • Fragile skin
  • Scars or skin color changes from healing blisters
  • Increased hair growth
  • Red or brown urine

When to see a doctor

Many signs and symptoms of porphyria are similar to those of other, more common conditions. This can make it difficult to know if you're having an attack of porphyria. Any of the following symptoms should prompt you to seek immediate medical attention:

  • Severe abdominal pain, but sometimes pain in your chest, legs or back, accompanied by constipation, vomiting and sometimes diarrhea
  • Sensitivity to the sun and sometimes artificial light, causing burning pain and sudden painful skin blistering, redness (erythema) and swelling (edema)
  • Red or brown urine
May. 20, 2014

You Are ... The Campaign for Mayo Clinic

Mayo Clinic is a not-for-profit organization. Make a difference today.