PFAPA syndrome is an autoinflammatory disease characterized by recurrent episodes of fever. Its name is an acronym for its hallmark symptoms: Periodic Fever, Aphthous Stomatitis, Pharyngitis, and cervical Adenitis. The condition is not caused by an infection and is not contagious.
What is PFAPA Syndrome?
PFAPA syndrome presents a predictable pattern of symptoms. The primary feature is a periodic fever, where a child’s temperature can rise above 102°F (38.9°C). These fevers appear suddenly and recur every three to six weeks with regularity, and the episodes last for three to six days.
Accompanying the fever, a child must exhibit at least one of three other symptoms. Aphthous stomatitis refers to the development of mouth sores, similar to canker sores. Pharyngitis, or a sore throat, is also common and may present with redness on the tonsils. The final symptom is cervical adenitis, which is the swelling of lymph nodes in the neck.
Other signs during an episode can include headache, joint pain, chills, or abdominal pain. Despite the intensity of these episodes, children are completely healthy and free of symptoms between flare-ups. Their growth and development are not affected by the condition.
Prevalence and Demographics
While PFAPA is classified as a rare disease, it is the most frequently diagnosed periodic fever syndrome in children. The exact prevalence is not known, but estimates suggest 2 to 3 cases per 10,000 children. The condition is often underdiagnosed or misdiagnosed as a recurring infection, which may mean the actual number of cases is higher.
The onset of PFAPA occurs before the age of five. It can affect children of any ethnic group and is found in both males and females, though some reports suggest it is slightly more predominant in boys. Although the cause remains unknown, the syndrome sometimes runs in families.
The Diagnostic Process
There is no single blood test or imaging scan that can definitively diagnose PFAPA syndrome. The diagnosis is clinical, based on a distinct pattern of symptoms and the exclusion of other conditions. A physician will conduct a physical examination and take a detailed medical history to rule out other causes of recurrent fevers, such as strep throat or cyclic neutropenia.
The established clinical criteria require regularly recurring high fevers and the presence of at least one associated symptom (mouth sores, sore throat, or swollen neck glands). It is also required that the child has normal health between episodes. Blood tests taken during a flare will show elevated inflammatory markers, like C-reactive protein (CRP), which return to normal between episodes.
Managing PFAPA Episodes
The goal of managing PFAPA is to control symptoms and shorten the duration of fever episodes. Over-the-counter fever reducers are often not effective for the high fevers associated with the syndrome. The most effective treatment is a single, low dose of a corticosteroid, like prednisone, administered at the beginning of an episode, which can resolve symptoms within hours.
While effective, using steroids may shorten the interval between episodes. For children with very frequent flares, preventive medications like cimetidine or colchicine may be considered, though their success rates vary. A more definitive option is a tonsillectomy, which can result in a complete resolution of episodes in more than 80% of children.
For most children, the syndrome resolves on its own. Episodes become less frequent over time and often disappear during adolescence or early adulthood, leaving no long-term health issues.