Porphyria

Porphyria are a group of diseases caused by a build-up of natural chemicals called porphyrins. This can happen when you lack certain enzymes (proteins) in your body.

Porphyria can cause a wide range of symptoms. Porphyria are rare conditions.

Porphyria types

There are many types of porphyria, which are commonly divided into 2 categories:

• cutaneous porphyria — affect your skin, such as porphyria cutanea tarda
• acute porphyria — mainly affect your nervous system, such as acute intermittent porphyria

The symptoms of porphyria can vary, depending on which type of porphyria you have and how severe it is. You may have no symptoms or go for long periods of time without any symptoms. Or you may get severe symptoms.

If you have acute intermittent porphyria, the first sign of an attack might be feeling restless and anxious.

The most common symptoms of porphyria are:

• skin problems, such as sensitivity to the sun, blistering, discolouration and scarring
• abdominal pain, nausea and vomiting
• high blood pressure and fast heart rate
• muscle weakness
• numbness in your arms and legs
• confusion and seizures

Porphyria are caused by a shortage of enzymes (proteins) that help your body make haem. Haem has a few different functions in your body. For example, it is part of the haemoglobin in your red blood cells.

Because these enzymes are missing, other chemicals called porphyrins build up in your blood and are not made into haem. When you have a lot of porphyrins it can cause symptoms such as abdominal (tummy) pain and skin problems.

Porphyria often runs in families, but they can also occur without anyone else in your family having it.

An infection with a virus such as hepatitis C or HIV can cause porphyria.

You should see your doctor if you have symptoms of porphyria.

If you have been experiencing symptoms for a while and they are not improving or are getting worse, use the healthdirect Symptom Checker to help you decide what to do.

Your doctor will ask you questions about your symptoms and your family medical history. They will also examine you.

Your doctor may arrange for you to have urine or blood tests. You might need to have a skin biopsy (small sample taken for testing).

Genetic tests can be useful to find out if you have a type of porphyria that runs in families.

Because porphyria can cause so many different symptoms, it can be hard to diagnose.

Porphyria can't be cured, but there are many ways to manage and treat it.

Depending on what type of porphyria you have, your doctor may suggest:

• getting advice from a dietitian for a special diet
• medicine to control your pain, nausea or vomiting
• other medicines to reduce the amount of porphyrin in your blood
• regular venesection (also known as phlebotomy or bloodletting) to reduce the amount of porphyrin in your blood

If you have severe porphyria, you may need treatment in hospital to manage your symptoms.

There are some types of porphyria where you may need treatment by a specialist, such as a gastroenterologist.

If an attack of porphyria is not treated, it can lead to severe symptoms such as:

• respiratory (breathing) failure
• severe neurological symptoms like paralysis and seizures
• death

If you have porphyria, you might need to have regular monitoring for problems with your kidneys or liver.

If you have pain and anxiety with no visible symptoms, it can be hard to explain how you feel to others. It can be distressing if there are delays in getting a correct diagnosis.

Some of the lifestyle changes that can help you manage porphyria and decrease the chance of having symptoms include:

• avoiding any medicines that may trigger an attack — check the list at the Porphyria Association Australia
• avoiding alcohol
• not smoking or vaping
• protecting your skin from the sun as much as possible

Visit the Australia Porphyria Association website for more information about the different types of porphyria, porphyria testing and support services.

You can also call the healthdirect helpline on 1800 022 222 (known as NURSE-ON-CALL in Victoria). A registered nurse is available to speak with 24 hours a day, 7 days a week.