PFAPA Syndrome

What is PFAPA syndrome?

PFAPA (periodic fever, aphthous stomatitis, pharyngitis, adenitis) is a childhood syndrome that affects both boys and girls. It causes repeated episodes of fever, mouth sores, sore throat, and swollen lymph nodes. PFAPA usually starts in early childhood between ages 2 and 5. In very rare cases, the syndrome may start in adulthood.

The immune system works to help keep you healthy. Its job is to find and destroy things in the body that may cause harm. This includes bacteria and viruses. Inflammation is part of the immune system’s response. It causes cells of the immune system to become active. These cells make substances that signal the brain to raise body temperature and cause a fever. The signals also cause redness and swelling.

PFAPA may occur without a known cause. An abnormal activation of the immune system causes episodes of fever and other symptoms. PFAPA is 1 of a group of disorders that cause fevers due to abnormal inflammation. It’s the most common condition in this group.

What causes PFAPA syndrome?

Researchers aren’t sure what sets off PFAPA. It doesn’t appear to run in families, unlike some other causes of repeated fevers in children. Researchers haven’t identified a gene linked to PFAPA. The immune response is different from with a normal infection. It's is not contagious. You can’t catch it from someone who has the condition.

What are the symptoms of PFAPA syndrome?

Common symptoms of PFAPA include:

• Fevers at regular intervals of 2 to 8 weeks. They may be high [over 102°F (38.9°C)] and last 3 to 6 days.

• Mouth sores (aphthous stomatitis).

• Sore throat with redness (pharyngitis).

• Enlarged lymph nodes of the neck (adenitis).

• White patches on the tonsils.

Less common symptoms include:

• Headache.

• Joint pain.

• Rash.

• Belly (abdominal) pain.

• Nausea and vomiting.

• Diarrhea.

Episodes of PFAPA usually last a few days to a week. These episodes may come back every few weeks. Between these episodes, children are completely well. Children with PFAPA grow and develop normally.

How is PFAPA syndrome diagnosed?

Your child’s health care provider will ask about your child’s health history and symptoms. Your child will also have a physical exam. The provider will need to make sure the symptoms aren’t caused by another illness, such as an infection, autoimmune disease, or another fever syndrome.

There isn’t a test that can diagnose PFAPA. But your child may have tests, such as:

• Blood tests, such as white blood counts. These look for signs of infection.

• Erythrocyte sedimentation rate and C-reactive protein. These blood tests check for general inflammation.

• Strep culture. This checks for strep throat.

• Imaging tests. These may include an abdominal CT scan to rule out other disorders.

• Genetic tests. These are done to check for other syndromes that cause repeated fevers.

Your child’s provider may not be able to diagnose PFAPA right away. At first, they may diagnose your child with a simple viral illness before figuring out that PFAPA is the cause.

A pediatric rheumatologist often diagnoses PFAPA. For the diagnosis, your child must have had at least 3 episodes of fever. Your child must also have shown the key features of PFAPA, such as a sore throat (pharyngitis) and swollen lymph nodes. If your child has symptoms between PFAPA flare-ups, another diagnosis is more likely. A positive response to treatment (with steroids) also helps providers finalize the diagnosis.

How is PFAPA syndrome treated?

Providers are still working to figure out the best treatment for PFAPA. Possible treatments include:

• A short course of steroids. This often shortens or ends the episode.

• Medicines, such as cimetidine or colchicine. These may help prevent future episodes in a small number of children.

• Surgery to remove the tonsils. This may prevent future episodes in some children.

The fever often doesn’t respond well to standard fever-reducing medicines, such as acetaminophen or ibuprofen. But these may still be a possible choice.

Talk with your child’s provider about the risks and benefits of treatments. While steroids shorten or end episodes of PFAPA, they may also shorten the length of time between episodes. Repeated use of steroids can also cause side effects, such as trouble sleeping.

PFAPA doesn’t cause severe symptoms or complications. Because of this, some providers may advise against any treatment. Even without treatment, PFAPA usually stops sometime after age 10. In rare cases, a child may still have symptoms into adulthood, though usually less often.

What are possible complications of PFAPA syndrome?

PFAPA doesn’t cause any known long-term complications.

Using steroids may have long-term complications. Discuss this with your provider.

Living with PFAPA syndrome

Your child may need to miss several days of school a month. Work closely with your child’s school to provide the best support for your child.

When should I contact my child's doctor?

Call your child’s health care provider if you think your child is having an episode of PFAPA symptoms.

Key points about PFAPA syndrome

• PFAPA syndrome causes repeated episodes of fever, mouth sores, sore throat, and swollen lymph nodes. It happens because of an abnormal immune system response.

• To diagnose PFAPA, your child’s provider will need to rule out other conditions that may cause repeated fevers.

• Steroid medicines often end or shorten an episode. But they also may cause more frequent episodes.

• Surgery to remove the tonsils may end the syndrome in some children.

• PFAPA does not cause severe symptoms or long-term complications.

• PFAPA syndrome usually goes away on its own in the second decade of life.

Next steps

Tips to help you get the most from a visit to your child’s provider:

• Know the reason for the visit and what you want to happen.

• Before your visit, write down questions you want answered.

• At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you for your child.

• Know why a new medicine or treatment is prescribed and how it will help your child. Also know what the side effects are and when they should be reported.

• Ask if your child’s condition can be treated in other ways.

• Know why a test or procedure is recommended and what the results could mean.

• Know what to expect if your child does not take the medicine or have the test or procedure.

• If your child has a follow-up appointment, write down the date, time, and purpose for that visit.

• Know how you can contact your child’s provider after office hours. This is important if your child becomes ill and you have questions or need advice.