Quick Summary

Hepatic porphyria:

• is a group of very rare conditions
• is caused by a problem making blood
• can cause a range of symptoms throughout the body
• increases the risk of developing liver disease or liver cancer
• treatment can sometimes cause liver damage

Find out more about hepatic porphyria on this page.

What is hepatic porphyria?

Porphyria is the name for a group of rare conditions. They are caused by a problem when a molecule called haem is made.

Doctors call porphyria hepatic porphyria if that problem happens in the liver.

They call other types of porphyria erythropoietic porphyria.

Porphyria is also grouped by the problems it causes:

• Acute porphyria leads to sudden attacks of symptoms like severe pain. It can also cause ongoing symptoms.
• Cutaneous porphyria can cause severe skin problems.

Types of hepatic porphyria

There are 4 different types of hepatic porphyria:

• acute intermittent porphyria (AIP)
• 5-aminolevulinic acid (ALA)
• dehydratase deficiency porphyria (ADP)
• hereditary coproporphyria (HCP)

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What causes porphyria?

What normally happens?

Haem is part of the haemoglobin molecule that carries oxygen in blood. It is made from parts called porphyrins. These are put together in a complicated process with lots of different steps. These steps need special proteins called enzymes. The instructions to make the enzymes are in your genes.

What happens in porphyria?

If there is a mistake in the gene, the enzyme will not be made properly. This means the process of making haem will get stuck. The haem will not be made properly. So the porphyrins can build up and cause problems.

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How does hepatic porphyria affect the liver?

Not everyone with hepatic porphyria will develop liver problems. Other symptoms are likely to appear first and may be far more significant. However, in some cases, hepatic porphyria causes liver damage.

Liver disease and cirrhosis

Liver damage from porphyria builds up very slowly over many years. In the early stages, there are no symptoms, and most people will not know it is happening.

Over time, this damage can sometimes lead to serious liver damage called cirrhosis.

Cirrhosis is a late stage in many different types of liver disease. You can use the links below to find out more.

Find out more about the stages of liver disease

Find out more about cirrhosis

Liver cancer

Hepatic porphyria raises the risk of a rare cancer called hepatocellular carcinoma (HCC).

Because hepatic porphyria is so rare, it is hard to say exactly how big the risk is. Some recent studies tracked groups of people with hepatic porphyria for several years. They found that for every 100 people with hepatic porphyria:

• 1 or 2 developed HCC
• 98-99 did not develop HCC

Find out more about HCC liver cancer.

If you have hepatic porphyria, you might have regular tests (surveillance) to check for HCC. This may depend on your age. Talk to your medical team if this is something you may want.

Find out more about HCC surveillance.

Hemin treatment and liver damage

A treatment called hemin is sometimes used for acute porphyria attacks. If this treatment is needed a lot, it can sometimes cause iron to build up in the liver and cause damage.

Liver transplant

In very rare cases, a person with hepatic porphyria may be considered for a liver transplant.

A new liver will be able to make haem normally and should stop all the symptoms of hepatic porphyria. But it is a very big operation with a lot of risks and lifelong issues. So it is only considered for people who have severely disabling attacks. And when all other treatment options have failed.

Find out more about liver transplants.

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More information and support

Dealing with any kind of long-term medical condition is challenging. It can be even harder when your condition is rare. But you are not alone, and there is support for you.

The British Porphyria Association. More details on living with all types of porphyria, including hepatic porphyria. They also offer support by phone or email.

Mortal and Strong. A charity that helps anyone with an incurable condition.

Live UK also offers a range of support. You can find out more below.

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