What Is Porphyria?
No matter what kind of porphyria you have, it has the same root cause: a problem with how your body makes a substance called heme. Heme is part of the "hemoglobin" in your blood -- proteins that carry oxygen from the lungs to the rest of your body.
Heme has iron and gives blood its red color. It's made in your liver and bone marrow -- the spongy center of your bones. A variety of enzymes play a role in the process.
If you have porphyria, your body doesn't have enough of some of these enzymes. This shortage leads to a buildup of certain chemicals, called porphyrins, that help make heme.
The type of porphyria you have is linked to the specific enzyme that your body lacks.
Most types of porphyria are inherited. That means one or both of your parents passes a mutated gene to you that leads to the disease.
One common type of cutaneous porphyria, known as porphyria cutanea tarda, is sometimes passed through genes but can also be what doctors call an "acquired disease." In that case, certain conditions or actions can trigger symptoms of porphyria. These triggers can be things like:
Other things that might trigger acute porphyria are:
Symptoms of Porphyria
Symptoms are different depending on the type of porphyria.
Symptoms of acute porphyria
The symptoms of acute porphyria can develop quickly and last for days or weeks. You might have an imbalance of salt in your body along with this type of porphyria.
The symptoms can include:
- Belly pain, often severe
- Chest pain
- Faster heart rate and higher blood pressure
- Limb and back pain
- Muscle weakness
- Tingling and loss of sensation
- Vomiting and constipation
Some complications you could get are:
Symptoms of cutaneous porphyria
Symptoms of cutaneous porphyria happen when your skin is in sunlight. The most commonly affected areas include the face and the back of the:
You may get symptoms on your skin such as:
Doctors sometimes find it tricky to diagnose porphyria because the symptoms are similar to those of other diseases. If your doctor thinks you have it, they may order blood, urine, and stool tests to get a diagnosis. The best time for you to do these tests is when you have an outbreak of symptoms or around that time.
Sometimes you'll get multiple tests to help your doctor figure out which specific type of porphyria you have.
Your doctor may also suggest you get a genetic test. Since porphyria often runs in families, your doctor may recommend that others in your family get this test as well.
Questions for your doctor
- What caused my porphyria?
- Which type do I have?
- What tests do I need?
- How can I avoid my triggers?
- Which treatments do you recommend?
- How can I protect my skin from the sun?
When you have an outbreak of acute porphyria symptoms, you may need to stay in the hospital. You'll get medicine for pain, nausea, and vomiting. Your doctor may prescribe givosiran (Givlaari), which helps reduce the toxins linked to the attacks.
If you have cutaneous porphyria, your treatment will depend on the specific type of the disease you have and how severe your symptoms are.
If you have porphyria cutanea tarda, your treatment might include:
- Regular removal of your blood to lower the amount of iron in your liver. This is called phlebotomy.
- Low doses of the antimalarial drug chloroquine or hydroxychloroquine
Your doctor may suggest that you avoid anything that triggers an outbreak. They will also treat conditions you have that bring on porphyria, like HIV or hepatitis C.
Doctors for porphyria
There are many things you can do to prevent outbreaks and manage your symptoms. You will likely need care from a team of health care professionals. You might see:
- Hematologists, doctors who treat blood diseases
- Dermatologists, specialists in skin diseases
- Hepatologists, doctors who treat liver diseases
- Genetic counselors, who advise people about their risk for inherited diseases
It may take time to find the right doctors, because porphyria is so rare. The American Porphyria Foundation (APF) can help you find a specialist in your area.
Good nutrition is another important part of taking care of yourself when you have porphyria. Your doctor or dietitian will help you get the right balance of carbohydrates and nutrients in your meals.
Complications of acute porphyria
Acute porphyria can be life-threatening. Complications can include:
- Breathing problems
- High blood pressure
- Chronic pain
- Chronic kidney failure
- Liver damage
Complications of cutaneous porphyria
Cutaneous porphyria can lead to permanent skin damage. Complications of it can include:
- Fragile skin
How porphyria affects you depends on the type you have. Acute porphyria symptoms start quickly and last for a few days or weeks. Severe attacks of acute porphyria can sometimes cause nerve damage and muscle weakness that can take months to get better.
Since cutaneous porphyria symptoms start when your skin is in sunlight, staying out of the sun will heal your skin and help prevent permanent damage.
Porphyria is a chronic disease, which means symptoms come and go throughout your life. Avoiding your triggers will help prevent bouts of symptoms.
Remember that everyone with porphyria is different. Some people have milder symptoms than others.
Treatments can help you feel better and prevent complications.
Keep in mind that researchers are always testing new treatments in clinical trials. Ask your doctor if you should consider joining one.
Getting porphyria support
When you're managing porphyria, just as with any other serious medical problem, it's important to reach out to family and friends. They can give you the emotional backing you need and also help with everyday tasks while you get treatment.
Your medical team can also offer information and support. They may know about support groups that let you meet others with your condition.
Also, check the website of the American Porphyria Foundation. The group hosts patient education sessions where you can learn more about managing your symptoms. It also offers support for caregivers.