Extreme PFAPA in children – a scientific article

What is so special about extreme PFAPA?

In normal PFAPA, episodes present every 2-8 weeks. In severe PFAPA these episodes occur less than 2 weeks apart, for at least 3 consecutive months.
The goal of this article was to study the characteristics of patients who suffer from extreme PFAPA.

Methods – this was a retrospective study, where data was collected from the medical records of patients who presented with extreme PFAPA prior to 6 years of age and were followed at Schneider Children’s Medical Center in Israel between the years 2014-2021.
Extreme PFAPA was defined as having recurrent episodes less than 2 weeks apart, for at least 3 consecutive months, at any point during the disease (either at presentation or later on).

Results – during the timeframe of the study, a total of 365 patients with PFAPA were treated. There were 47 (almost 13%!) who had extreme PFAPA.
In terms of the differences between the two groups (the extreme and normal) – the extreme PFAPA patients presented for the first time at a younger age (around 1.5 years compared to 2.5 years) and were diagnosed at a younger age (2.5 years compared to 4.5 years). Note how long it can take to reach this important diagnosis.
In terms of treatment, more patients with extreme PFAPA were treated with colchicine or montelukast, both of which are medications used to treat only resistant PFAPA.

What other interesting findings did this study reveal? We are already aware that sometimes, after a diagnosis of PFAPA is made and adequate treatment with steroids is started, the frequency of episodes increases.
Indeed, this is what happened to about 25 of the children in this study who had normal PFAPA – after they started treatment with steroids, their episodes became extreme.
What is probably the most important finding is that in about 95% of children (in both the normal and extreme group), episodes ceased after the age of 14.

Discussion and conclusion – what makes this article so unique is that it is one of the first to describe a condition that affects quite a large percentage of children.
Evidently this condition is found in 13% of children. Keep in mind, however, that the group studied probably represents some of the more complicated cases of PFAPA out there, those that were referred for treatment at a tertiary hospital. So, we may have what is called a “selection bias”, meaning that the prevalence of this condition in the general population may be lower.
This study describes the characteristics of these children, most of which were younger at presentation and diagnosis.
In addition, this article emphasizes how the frequency of episodes may increase during the period after diagnosis has been made and steroidal treatment started.
For physicians who treat children with PFAPA, this article provides tools for the recognition and management of the unpleasant cases of extreme PFAPA, including treatment of second line agents in these children.
And most importantly, despite this being an unpleasant condition, this study demonstrates that all children are healthy and disease-free in the long run.
Good luck!