301 patients with PFAPA–what do they look like?

This month, an interesting article about PFAPA appeared in the journal Rheumatology.  PFAPA (periodic fevers, aphthous stomatitis, pharyngitis, and adenitis) is an autoinflammatory disease that affects children.  It is manifested by episodes of fevers lasting a few days, in addition to the features that make up the name of the disease.  Unlike other autoinflammatory diseases, episodes of fever occur at very specific intervals (parents mention that the fevers occur “like clockwork,” and they can predict when the next episode will occur on a calendar).  Fortunately, most patients respond well to steroids during fever episodes, and the disease usually resolves within a few years without sequellae.

This study represents the largest group of patients with PFAPA ever published.  They found that the average age of onset of symptoms was about 2 years of age, and it often took several years to make the diagnosis of PFAPA.  Most patients were diagnosed before age 6.  On average, episodes of fever lasted 4 days, and recurred every 4 weeks.  Only 44% of patients with PFAPA had the classic triad of apthous ulcers (oral ulcers), adenitis (swollen, tender lymph nodes in the neck), and pharyngitis (sore throat); the rest had only one or two of these symptoms.   Interestingly, children often complained of abdominal pain, joint pain, muscle pain, and headaches during episodes.  

This study highlights one of the biggest difficulties of PFAPA–making an accurate diagnosis.  Patients don’t need to have the classic triad of symptoms to be diagnosed with PFAPA, and many children complain of additional symptoms during episodes that are likely underrecognized.  Perhaps it is time to create new diagnostic criteria for this disease!

What do you think?  Have you or a loved one been diagnosed with PFAPA?  How long did it take for your doctors to make the diagnosis?

6 thoughts on “301 patients with PFAPA–what do they look like?”

  1. My son has a diagnosis of PFAPA (diagnosed in 2012 at 16 months old). He has every symptom of PFAPA (the full range of symptoms listed above – he is in the minority I guess) and he has all of them during every episode. He started episodes at age 8 months. He is 5.5 years old now. There was about 1 year (between ages 3.5-4.5) where he only had a few episodes. Unfortunately they came back to every 23 days after (just as before). He has had a 3-month break this last few months. Your work is so important for parents and children today. I have been following you on Twitter, and reading your site. Thank you for your hard work in this area of mystery (new area to science!). I run my own site about my son’s journey and I share there. I am trying to get others to share about their journey with PFS and other autoinflammatory disorders. Thank you again.

  2. My 8 year old son has PFAPA. After being sick all the time, and other family members inquiring about his health, I did an online search for “frequent fevers”. I got on a website that listed and described all the different types of Periodic Fever Syndromes – I could rule out almost all of them by the symptoms listed. When I got to PFAPA I felt like “aha this is it!” But I felt like his fevers weren’t occurring on a regular schedule so I dismissed PFAPA. A couple of months went by (more fever episodes) and it was time for his annual well-check, I wanted to let the doctor know how concerned I was about the amount of school he had missed. I felt that I needed a concrete number of days to tell him so I got on my son’s school website and accessed his attendance record – and there it was – four days of absence every 30 days for the last 8 consecutive months!!! How did I not notice??!! I showed up at his well visit with “my diagnosis” scribbled on a piece of paper along with all the days and dates that he was absent from school. HIs doctor reassured my that it wasn’t unusual for young, school-aged kids to get infected with a different virus every month. To appease me he told me to hang on to my piece of paper, and when he has his next fever, make an appointment and bring it with me. I told him,” ok – see you next month!” When I showed up the following month, he connected me with an pediatric infectious diseases specialist who confirmed a PFAPA diagnosis.
    I love that you are writing articles about this illness. I agree that there needs to be a new diagnostic criteria created. This specialist that we have seen has said that this (PFAPA) is a body thermostat problem – that the body has trouble regulating it’s own temperature. I’m not sure I’m on board with that, so I continue to try and get as much info as I can online. Unfortunately there isn’t much information out there and most of it comes from unscientific sources such as facebook, pinterest, and other people’s personal blogs claiming diet, vitamins, essential oils, electrical wires etc. can make a difference.

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