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.
Porphyria is generally divided into two categories:
These include forms of the disease that cause predominantly nervous system symptoms
(neuron porphyrias) and, in some cases, skin symptoms (neurocutaneous porphyrias), as well.
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:
- Severe abdominal pain
- Pain in your arms, legs or back
- Muscle pain, tingling,
numbness, weakness or paralysis
- High blood pressure
Cutaneous porphyrias and neurocutaneous acute porphyrias
skin redness (erythema)
- Skin swelling (edema)
- Red urine
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
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.
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.
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