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Porphyria refers to a group of disorders that result in a buildup of chemicals called porphyrins in your body. Although porphyrins are normal body chemicals, it's not normal for them to build up. The cause is usually an inherited mutation.  
      
Porphyria typically affects your nervous system or skin or both. The specific signs and symptoms of porphyria depend on which of your genes is abnormal.  
     
Treatment depends on the type of porphyria you have. Although porphyria can't be cured, certain lifestyle changes may help you manage your porphyria.  
         
Symptoms 
   
Porphyria is generally divided into two categories:  
   
Acute porphyrias.
       
These include forms of the disease that cause predominantly nervous system symptoms (neuron porphyrias) and, in some cases, skin symptoms (neurocutaneous porphyrias), as well.  
       
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.  Specific signs and symptoms depend on the type of porphyria you have, but common signs and symptoms of porphyria include:

  • Acute porphyrias
  • Severe abdominal pain
  • Constipation
  • Vomiting
  • Diarrhea
  • Pain in your arms, legs or back
  • Muscle pain, tingling, numbness, weakness or paralysis
  • Seizures
  • Fever
  • Confusion
  • Hallucinations
  • Disorientation
  • Paranoia
  • Red urine
  • High blood pressure
              

Cutaneous porphyrias and neurocutaneous acute porphyrias include:

  • Itching
  • Painful skin redness (erythema)
  • Skin swelling (edema)
  • Blisters
  • Red urine

          

Acute porphyria attacks are rare before puberty and after menopause. Some forms of cutaneous porphyria begin to show signs and symptoms during infancy or childhood.  
       
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.  
      
Acute porphyria

   

Often, an episode of acute porphyria begins with severe abdominal pain, sometimes accompanied by vomiting or constipation. Muscle pain, confusion and disorientation also are common signs and symptoms of acute porphyria. See your doctor if you have any of the signs or symptoms of acute porphyria.  
     
Cutaneous porphyria 
       
If you develop signs and symptoms of cutaneous and neurocutaneous porphyria — itching, painful skin redness, skin swelling and blisters that appear within several minutes of sun exposure — see your doctor. Also see your doctor if your urine appears red, which can be a sign of either type of porphyria.

Porphyria Cutanea Tarda