PFAPA Syndrome

What is PFAPA syndrome?

PFAPA is a childhood syndrome that causes repeated episodes of fever, mouth sores, sore throat, and swollen lymph nodes. PFAPA stands for periodic fever with aphthous stomatitis, pharyngitis, and adenitis. PFAPA affects both boys and girls. The syndrome usually starts in early childhood, between the ages of 2 and 5 years. Very rarely, the syndrome may start in adulthood.

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

In some cases, this may happen without a good reason. This appears to happen in PFAPA. An abnormal activation of the immune system causes episodes of fever and the other symptoms. PFAPA is one 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 triggers PFAPA. PFAPA 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 than with a normal infection. Some researchers think infection may be a cause. PFAPA is not contagious. You can’t catch it from someone who has the condition.

What are the symptoms of PFAPA syndrome?

Children with PFAPA have repeated bouts of high fevers over 102°F (38.9°C). The following are also common symptoms:

  • 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
  • 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?

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

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

  • Blood tests, to look at white blood count for signs of infection
  • CRP blood test, to check for general inflammation
  • Strep culture, to check for strep throat
  • Imaging tests, such as abdominal CT
  • Genetic tests, to check for other syndromes that repeated fevers

Your child’s health care provider may not be able to diagnose PFAPA right away. At first, he or she may diagnose your child with a simple viral illness before determining 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 pharyngitis and swollen lymph nodes. If your child has symptoms between PFAPA flares, another diagnosis is more likely. Positive response to treatment (with steroids) also helps clinicians finalize the diagnosis.

How is PFAPA syndrome treated?

Health care providers are still working to learn what the best treatment for PFAPA is. Possible treatments include:

  • A single dose of steroids, which often shortens or ends the episode
  • Medicines such as cimetidine or colchicine, which may help prevent future episodes in a small number of children
  • Surgery to remove the tonsils, which may prevent future episodes in some children

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

Talk with your child’s health care 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 health care 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.

Coping 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 call my child's healthcare provider?

Call your child’s healthcare 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 inflammatory response.
  • To diagnose PFAPA, your doctor will need to rule out other conditions that may cause repeated fevers.
  • Steroid medications often end or shorten an episode, but they also may cause more frequent episodes.
  • Surgical removal of 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 healthcare provider:

  • Before your visit, write down questions you want answered.
  • At the visit, write down the names of new medicines, treatments, or tests, and any new instructions your provider gives you for your child.
  • 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.