The Basics
Written by the doctors and editors at UpToDate � �
What are porphyrias? " � Porphyrias are a group of disorders that affect how the body makes a red pigment 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 porphyrias. 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 porphyria is called "porphyria cutanea tarda, " � or "PCT. " � It can be caused by abnormal genes or by some chemicals, alcohol, or infections. � �
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 cause "attacks " � that last a few days to 2 weeks. These attacks can cause:
- Belly pain (this is the most common symptom)
- Vomiting
- Constipation
- Seizures (convulsions)
- Weakness, numbness, tingling, or problems with sensation (caused by nerve damage)
- Paralysis of the muscles that control breathing
- Tiredness
- Red or dark colored urine
- Anxiety, confusion, or depression
- Cutaneous porphyrias " � Cutaneous porphyrias affect the skin when it is exposed to sunlight. These porphyrias can cause:
- Skin that tears or bleeds easily
- Blisters on the skin (especially on the face and backs of the hands)
- Skin pain, itching, and swelling
- Tiredness (caused by having too few red blood cells)
Some porphyrias cause symptoms of both acute and cutaneous porphyrias. � �
Some people have symptoms of porphyria when they are children. Some do not have symptoms until they are adults. � �
The symptoms of the different porphyrias can also get better or worse depending on a lot of factors. Some examples of things that can make porphyria symptoms worse in some people include: � �
- Certain medicines
- Certain hormones (which can change during a womans monthly cycle)
- Not eating enough or not drinking enough fluids
- Cigarettes and alcohol
Will I need tests? " � Yes. If your doctor suspects that you have a porphyria, you will need tests done on your blood, urine, and sometimes 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 of the porphyrias is treated differently. Treatment is also different depending on whether you are in the middle of having an attack or trying to avoid an attack. In general, people being treated for a porphyria might: � �
- Get fluids through a tube (called an "IV " �) that goes into a vein, to treat dehydration
- Get a medicine called hemin (also through an IV), which replaces the heme the body would normally make
- Need to wear special clothes and sunblock to protect their skin from the sun
- Need to avoid some medicines (if this applies to you, your doctor will give you a list), cigarettes, alcohol, or anything that makes the porphyria worse
- Have blood removed (this is a lot like donating blood)
- Need to make sure to eat at regular times, because going without food for too long can make symptoms worse
- Need to take a vitamin called beta-carotene, which can make the skin less sensitive to the sun
- Take pain medicines
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. � �
What will my life be like? " � Having a porphyria can be very hard for some people. The symptoms can be painful, scary, and confusing. If you are having trouble coping with your condition, talk to your doctor or nurse. Many people with a porphyria find it helpful to speak to a counselor. Some need treatment for depression or anxiety. � �
All topics are updated as new evidence becomes available and our peer review process is complete. � �
This topic retrieved from UpToDate on: Nov 04, 2014. � �
Topic 87579 Version 1.0 � �
Release: 22.8 - C22.206 � �
� � 2014 UpToDate, Inc. All rights reserved. � �
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