What are the symptoms of porphyria?
Acute porphyrias are characterised by attacks of pain and other signs of neurological distress. In cutaneous porphyrias, the build-up of porphyrins and porphyrin precursors interacts with ultraviolet light from sun exposure to cause your skin to become very sensitive to light.
Symptoms do not usually appear until well after puberty and are seen more in women than in men (and more likely to occur during menstruation). The majority of people who inherit the disorder do not have attacks. Where symptoms do occur, they are sudden and can last for days or weeks.
Attacks of acute porphyria may unfold or progress with the following symptoms:
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anxiety, restlessness and insomnia
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severe abdominal pain
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pain in your arms, legs or back
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vomiting and constipation
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high blood pressure (hypertension)
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muscle pain, tingling, numbness, weakness or paralysis
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confusion, hallucinations and seizures
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breathing difficulties (respiratory paralysis), possibly requiring ventilation
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reddish coloured urine.
Acute attacks happen when the levels of porphyrins in your body become very elevated (increased).
They range in severity and usually require having to go to hospital. In the worst case they may require emergency procedures to prevent death.
Whatever the severity of your attacks, it is essential that medical staff act quickly to ensure you receive the appropriate medical treatment.
There is considered to be a slightly increased risk of having an acute attack during or following pregnancy. This risk is reduced if the porphyria you have is already diagnosed and most pregnancies don’t result in problems.
The symptoms of cutaneous porphyrias and neurocutaneous porphyrias usually appear quickly following exposure to the sun. They usually take the following forms:
Skin exposed to sunlight is likely to become very fragile, where even slight contact may cause injury to your skin. Areas most at risk are those more commonly exposed, such as your face, neck, hands and feet. In some cases this can lead to permanent skin damage.
A combination of porphyria cutaneous tarda and chronic liver damage may place a person at much higher risk of developing liver cancer, known as hepatocellular carcinoma (HCC).