Symptoms

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

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

Cutaneous porphyrias

Cutaneous porphyrias include forms of the disease that cause skin symptoms as a result of sensitivity to sunlight, but these forms don't usually affect your nervous system. Porphyria cutanea tarda (PCT) is the most common type of all the porphyrias.

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 on exposed skin, usually the hands, arms and face
• Fragile thin skin with changes in skin color (pigment)
• Itching
• Excessive hair growth in affected areas
• 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. If you have any of the above symptoms, seek medical attention.