Patient education: Porphyrias (The Basics)

What are porphyrias? — 

These are a group of conditions that affect how the body makes "heme." Heme is made from iron and helps blood cells carry oxygen around the body.

There are 8 different kinds of porphyria. Most are caused by changes in genes that run in families. But it is possible to be the first person in a family to have porphyria.

The most common porphyrias are:

●Porphyria cutanea tarda ("PCT")

●Acute intermittent porphyria ("AIP")

●Erythropoietic protoporphyria ("EPP")

This article has general information about porphyrias.

What are the symptoms of porphyrias? — 

Each of the porphyrias causes different symptoms. In general, they can be divided into 2 main types: "acute" and "cutaneous."

●Acute porphyrias – Acute porphyrias, such as AIP, cause "attacks" that last a few days to a few weeks. These attacks can cause:

•Belly pain (the most common symptom)

•Vomiting

•Constipation

•Muscle pain, weakness, or numbness – In some cases, muscle weakness can be serious, and even lead to paralysis or trouble breathing.

•Seizures

•Anxiety, confusion, depression, or trouble sleeping

•A fast heartbeat

•Trouble urinating, or red-colored urine

●Cutaneous porphyrias – Cutaneous porphyrias, such as PCT and EPP, affect the skin when it is exposed to sunlight. ("Cutaneous" means related to the skin.) These porphyrias can cause:

•Blisters on the skin, especially on the face and backs of the hands

•Skin pain, itching, and swelling

Some porphyrias cause both acute and skin symptoms.

Some porphyrias develop in childhood, while others do not develop until adulthood.

The symptoms of the different porphyrias can also get better or worse depending on a lot of factors. Your doctor or nurse can tell you if you need to avoid certain medicines, alcohol, smoking, or other things.

Will I need tests? — 

Yes. If your doctor suspects you have a porphyria, you need to get tests. These can be tests on a sample of your blood, urine, or bowel movement.

How are the porphyrias treated? — 

If you have porphyria, make sure the doctor treating you knows you have it. Porphyrias are not very common, so many doctors do not have a lot of experience treating them.

Each type of porphyria is treated differently:

●Acute porphyrias – These are the types that cause belly pain, seizures, or weakness. Attacks can be treated with medicines for pain or seizures, often in the hospital. There are also medicines to stop the attack. It is important to avoid anything that triggers attacks, including certain medicines. People who have many attacks can take special medicines.

●Cutaneous porphyrias – These are the types that cause skin symptoms. The main treatment is to protect yourself from the sun. A medicine called "afamelanotide" can treat some types. PCT is treated by removing blood or taking a medicine called "hydroxychloroquine."

Each specific type of porphyria might have other treatments, too. Your doctor can talk to you about what these might be.

What if I want to have children? — 

You can have children if you have porphyria. If you want to have children, ask your doctor or nurse if you could pass your condition on to your child. It might also help to talk to a genetic counselor.

What will my life be like? — 

It depends. With some types of porphyria, treatment works well and you can live a normal life. But having porphyria can be very hard for some people. In some cases, the symptoms can be painful, scary, or confusing. If you are having trouble coping with your condition, talk to your doctor or nurse. It might be helpful to speak to a counselor. There are treatments that can help with depression and anxiety, too.

More on this topic

Patient education: Porphyria cutanea tarda (The Basics)
Patient education: Acute intermittent porphyria (The Basics)
Patient education: Erythropoietic protoporphyria and X-linked protoporphyria (The Basics)
Patient education: Coping with worry and stress (The Basics)