What are the symptoms of porphyria?

Dr. Mehmet Oz, MD
Cardiology (Cardiovascular Disease)
Symptoms of porphyria include skin that develops blisters, swells, and itches or peels when it is exposed to sunlight, especially in areas that get the most sun exposure, such as the hands or face.

Porphyrias are a group of rare disorders that make it difficult for your body to produce hemoglobin properly. Hemoglobin is a protein in your blood that carries oxygen. The most common type of porphyrias, porphyria cutanea tarda, affects the skin.

Because this disorder is rare and the symptoms associated with it can signal a number of other conditions, it's important to get an accurate diagnosis from your doctor.

People with cutaneous forms of porphyria develop blisters, itching, and swelling of their skin when exposed to sunlight. Symptoms of acute porphyria include pain in the abdomen, chest, limbs, or back; numbness, tingling, paralysis, or cramping; vomiting; constipation; and personality changes or mental disorders. Acute attacks of porphyria can develop over hours or days and last for days or weeks.

Symptoms can vary widely in severity. Some people with gene mutations that can cause porphyria have no signs or symptoms of the disorder. These people are said to have latent porphyria.

This answer is based on source information from the National Institute of Diabetes and Digestive and Kidney Diseases.

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