Frequently Asked Questions
Navigating the Health System can be extremely challenging when you are diagnosed with porphyria. In the following video we sat down with Prof. Edward Janus and Dr. Ainslie Senz to discuss the challenges and some suggestions on how to improve the experience.
Q: How do I get tested?
A: Testing can be arranged through your GP and requires a blood, urine, and stool samples. See our page on testing for more information.
Q: I have elevated porphyrins on my test results, what do I do?
A: If a biochemical test indicates that porphyrin levels are elevated beyond a certain threshold it may be sufficient for a diagnosis of porphyria by a specialist. However, there are other conditions that can result in raised porphyrin levels. It is always best to consult your GP or specialist regarding test results.
Q: I have a family history of porphyria, I want to be genetically tested?
A: Genetic testing for porphyria is only available to people who have received a positive biochemical test. If you have been tested and show a positive result, genetic testing can be organised through your specialist. Testing of this kind is done firstly on an affected individual, and then if a gene mutation is identified genetic testing can be offered to relatives who may be at risk of having the mutation.
Q: How do I access the drug database for acute porphyria?
People with acute porphyria are unable to take many medications and supplements as it can cause an acute attack or flare their disease. There are many drug databases but the two that are recommended by Australian specialists are:
Cardiff Porphyria Service: https://www.wmic.wales.nhs.uk/specialist-services/drugs-in-porphyria/
Q: I have had an elevated porphyrin level, I want to see a specialist
The first step is for you to go and see your GP. Your GP can then give you a referral to one of the porphyria centres listed here. If there are no locally available porphyria centres many will offer telehealth through the public health system. They will be able to assess you and give your advice on what to do next.
Q: What do I do if my child is diagnosed with EPP?
A: A diagnosis of EPP can be scary, especially when your child is affected. This certainly presents some challenges, however there are many things parents can do to help manage symptoms. Sunlight avoidance is very important for kids with EPP, so protective clothing and window tinting are options to help your child stay out of the sun.
There are also numerous treatments for EPP that may become available once your child turns 18. See our page on EPP for more information on the condition and potential treatments.
Q: If I have PCT, do I need to avoid any medications?
A: No, PCT does not cause acute attacks due to medication. However, you want to look after your liver, which means avoiding alcohol. The oral contraceptive pill and hormone replacement therapy can affect your liver and be a cause of PCT, and should therefore be avoided.
Q: Can patients with EPP have acute attacks?
A: No. The main issue is skin pain. There is a very small risk of liver failure, which can present with jaundice, worsening sun sensitivity and right upper abdominal pain.
Q: Can I pass PCT on to my children?
A: Most patients with PCT cannot pass it on to their children. Less than one third of patients with PCT have a gene change, and this can be passed in a 50:50 manner to each child. However, the gene on its own is not enough to cause PCT symptoms. It would require another issue such as excessive alcohol intake or hepatitis to cause the condition to present.
Q: What can I use as contraception if I have porphyria?
A: In EPP, all forms of contraception, including the oral contraceptive pill, are allowed. In PCT, barrier methods (condoms, diaphragm), IUDs (intrauterine device eg copper IUD or Mirena), and progesterone-only Pill or Implanon can be used. In AIP, HCP and VP, hormonal contraception can be risky. Barrier methods or a copper IUD are safest, but you should have a discussion with your treating doctor about other methods.
Q: What dietary issues are there? Can I take supplements?
A: In PCT, it is recommended you avoid Vitamin C supplements, as this can increase your absorption of iron from food. It is also recommended you avoid iron supplements. You do not need to avoid other foods, although maintaining a healthy weight is good for your liver (fatty liver is a risk factor for PCT).
In EPP, iron deficiency is common. Iron supplements can be given, as can iron infusions. However, temporary flaring of skin sun sensitivity can be seen, so this should be done cautiously, ideally in winter, and with strict light protection. In acute hepatic porphyria (AIP, HCP, VP), iron and Vitamin C are allowed. Carbohydrates should NOT be avoided, as they are required to stay well. Avoid fasting and low calorie diets.
In all types of porphyria with sun sensitivity, you should take Vitamin D supplements. It is common to be low if you are sun avoiding/protecting, and this can lead to an array of other health problems such as osteoporosis.
In the acute porphyrias it is recommend that you do not fast (stop eating) or go on any major diet changes without consulting your specialist. Eating a regular balanced diet is currently recommended by specialists. Abstaining from drinking alcohol, taking recreational substances/drugs or smoking is also recommended as these can trigger an attacks.
Q: What should I do if I think I am having an acute attack of porphyria?
A: It is important to have a urine PBG test to work out if it is porphyria causing the symptoms. This is done by sending a urine specimen (in a jar covered with aluminium foil) to your local pathology laboratory. Your treating doctor should provide you with a pathology request form, and you can keep a urine specimen jar at home in case you become unwell. This test can be done quickly, with results in hours (unlike the full porphyrin screening tests which can take weeks). It is important for your doctor to specify on the form that it is a suspected acute porphyria attack. Your doctor should call you if the result is positive, to check you are ok. If symptoms are severe then you should attend the emergency department of your treating hospital.