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Acute porphyrias are rare conditions that affect how the body makes haem - a substance that makes blood look red and helps blood carry oxygen around the body.
Acute porphyrias are called ‘acute’ because they cause attacks that come on suddenly and last a short time.
Most types of porphyria are inherited from 1 or both parents, and are caused by a mutation in a gene that makes haem. Haem, also known as ‘heme’, is part of a protein called haemoglobin, which is found in red blood cells.
There are 4 types of acute porphyrias:
Acute porphyrias can cause potentially life-threatening episodes or attacks. See your doctor or go to a hospital if you have, or think you may have, an acute porphyria.
It is thought that most people who have the gene mutations that cause acute porphyrias will never have an acute attack. However, a small number have repeated attacks, but are healthy between these attacks.
The frequency and severity of attacks differ from person to person.
The symptoms of all types of acute porphyria include:
If you have variegate porphyria or hereditary coproporphyria, you may develop skin changes, such as blisters, especially on skin that has been exposed to the sun.
While most acute porphyrias are caused by a gene mutation that is passed on in families, attacks can be triggered by different factors, including:
Acute porphyrias are usually diagnosed with a urine test. You may need more urine tests as well as stool and blood tests to identify the type of porphyria you have.
If you are diagnosed with an acute porphyria, other members of your family should also be tested as most porphyrias are inherited.
Treatment is the same for all types of acute porphyria.
As attacks are often triggered by specific factors, you may be able to reduce the chance of an episode by avoiding possible triggers, such as:
If you have an acute porphyria attack, you will usually need to be treated in hospital.
Treatment may include:
It can take 3 to 4 days for your symptoms to fully resolve after treatment with haem arginate.
If you have repeated or severe acute porphyria attacks that do not respond to treatment, your doctor or specialist may recommend a liver transplant.
This is because when you have acute porphyria, your liver may not make certain enzymes (proteins used for chemical reactions in the body) that it should.
This can cause porphyrins to build up in your body and lead to attacks. Replacing your liver with one that produces these missing enzymes can help prevent future attacks.
Most people recover fully from an acute porphyria attack.
You can help prevent further attacks by avoiding the things that trigger an attack, as much as possible.
If you suspect that a specific medication you are taking has triggered an attack, speak to your doctor. They will usually be able to tell you if it is safe to stop taking that medication and give you advice on alternative treatments.
It is likely that your doctor will give you a card or medic alert bracelet that confirms you have an acute porphyria and the precautions you need to take. Carry this card with you or wear the bracelet at all times.
Speak to your doctor or specialist for specific advice on acute porphyrias. You can also get further information or support from organisations, such as the American Porphyria Foundation and the European Porphyria Network.
If you are worried that you may have acute porphyria, check your symptoms by downloading our free Self-Assessment Tool.
Date of last review: 16 June 2020
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Important: Our website provides useful information but is not a substitute for medical advice. You should always seek the advice of your doctor when making decisions about your health.