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Symptoms
By Mayo Clinic staffThere are two general categories of porphyria — acute and cutaneous. Signs and symptoms depend on the type of porphyria you have.
Acute porphyrias. These include forms of the disease that cause predominantly nervous system symptoms and, in some cases, skin symptoms, as well. Acute porphyria attacks are rare before puberty and after menopause in women. Signs and symptoms may last one to two weeks. Possible signs and symptoms include:
- Insomnia
- Anxiety or restlessness
- Severe abdominal pain
- Constipation
- Vomiting
- Diarrhea
- Pain in your arms, legs or back
- Muscle pain, tingling, numbness, weakness or paralysis
- Dehydration
- Excessive sweating
- Seizures
- Confusion
- Hallucinations
- Disorientation
- Paranoia
- Red urine
- High blood pressure
Cutaneous porphyrias. These include forms of the disease that cause skin symptoms as a result of oversensitivity to sunlight, but don't affect your nervous system. Some forms of cutaneous porphyria begin to show signs and symptoms during infancy or childhood. If you have this form of porphyria, you may experience:
- Itching
- Painful skin redness (erythema)
- Skin swelling (edema)
- Blisters
- Red 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, sometimes accompanied by vomiting or constipation
- Muscle pain
- Confusion
- Disorientation
- Painful skin redness
- Skin swelling
- Blisters that appear soon after sun exposure
- Red urine
- Puy H, et al. Porphyrias. The Lancet. 2010;375:924.
- Learning about porphyria. National Human Genome Research Institute. http://www.genome.gov/pfv.cfm?pageID=19016728. Accessed March 22, 2011.
- Porphyria. National Digestive Diseases Information Clearinghome (NDDIC). http://digestive.niddk.nih.gov/ddiseases/pubs/porphyria/Porphyria.pdf. Accessed March 22, 2011.
- Anderson KF. Porphyrias: An overview. http://www.uptodate.com/home/index.html. Accessed March 22, 2011.
- Porphyrias. The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merckmanuals.com/professional/print/sec12/ch155/ch155a.html. Accessed March 22, 2011.
- Desnick RJ, et al. The porphyrias. In: Fauci AS, et al. Harrison's Online. 17th ed. New York, N.Y.: The McGraw-Hill Companies; 2008. http://www.accessmedicine.com/content.aspx?aID=2883658. Accessed March 22, 2011.
- Singal AK, et al. Porphyria cutanea tarda and hepatoerythropoietic porphyria. http://www.uptodate.com/home/index.html. Accessed March 22, 2011.
- Wolanskyj AP (expert opinion). Mayo Clinic, Rochester, Minn. April 5, 2011.
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