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Erythropoietic Protoporphyria

Erythropoietic Protoporphyria

What are porphyrias? — Porphyrias are a group of disorders that affect how the body makes a substance called "heme." Heme is what makes blood red. It helps the blood carry oxygen. Heme also has other important roles in the body.
There are about 8 different kinds of porphyria. Most of these are caused by abnormal genes that are passed on in families, but it is possible be the first person in a family to have porphyria. The most common porphyrias are:
Porphyria cutanea tarda or "PCT" (see "Porphyria cutanea tarda")
Acute intermittent porphyria or "AIP" (see "Acute intermittent porphyria")
Erythropoietic protoporphyria or "EPP" (see "Erythropoietic protoporphyria")
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," which are described below.
Acute porphyrias – Acute porphyrias, such as AIP, cause "attacks" that last a few days to a few weeks. These attacks can cause:
•Belly pain (this is the most common symptom)
•Muscle pain, weakness, or numbness – In some cases, muscle weakness can be serious, and even lead to paralysis. Sometimes, the muscles that control breathing are affected.
•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. 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 symptoms of both acute and cutaneous porphyrias.
Some types of porphyria show up 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 that you have a porphyria, you will need to get tests. These can involve tests on your blood, urine, and/or a sample of bowel movement.
How are the porphyrias treated? — If you have a porphyria, make sure the doctor treating you knows a lot about the condition. Porphyrias are not very common, so many doctors do not have a lot of experience treating them.
Each type of porphyrias is treated differently:
Acute porphyrias – These are the types of porphyria that cause belly pain, seizures, or weakness. They are treated with medicines to stop your body from producing the chemicals that cause symptoms.
Cutaneous porphyrias – These are the ones that cause skin symptoms. The main treatment for these is protecting yourself from the sun.
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 a porphyria. If you want to have children, ask your doctor or nurse whether you might pass your condition on to your child. It can 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 a 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.
All topics are updated as new evidence becomes available and our peer review process is complete.
This topic retrieved from UpToDate on: Mar 30, 2020.
Topic 87579 Version 6.0
Release: 28.2.2 - C28.105
© 2020 UpToDate, Inc. and/or its affiliates. All rights reserved.

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