PFAPA syndrome causes recurrent episodes of fever in young children and stands for Periodic Fever, Aphthous Stomatitis, Pharyngitis, and cervical Adenitis. As the most common periodic fever syndrome in childhood, it first appears between ages two and five. The syndrome affects both boys and girls and can, in rare instances, begin in adulthood.
Recognizing the Symptoms
The defining characteristic of PFAPA syndrome is a high fever, often exceeding 102°F (38.9°C), that appears in a predictable, cyclical pattern. These fevers recur every three to six weeks and last for about three to five days. Parents may notice the clockwork-like regularity of these episodes, which can sometimes be predicted to the day.
Accompanying the fever are several other symptoms, though a child may not experience all of them during every episode. One is aphthous stomatitis, which involves the appearance of small, round ulcers in the mouth, similar to canker sores. These sores can appear on the tongue and inside the cheeks.
Another frequent symptom is pharyngitis, or a sore throat. This presents with redness and sometimes white patches on the tonsils, which can mimic the appearance of a streptococcal infection. The final component is cervical adenitis, which refers to swollen and tender lymph nodes in the neck.
While less common, some children may also experience other symptoms during an episode, such as:
- Headache
- Joint pain
- Chills
- Abdominal pain
The Diagnostic Process
There is no single test for PFAPA syndrome. It is a diagnosis of exclusion, meaning a physician must first rule out other possible causes for the recurrent fevers based on a clinical evaluation of the symptoms and their pattern.
The clinical criteria require a history of at least three periodic fever episodes. During these episodes, the child must also have at least one of the other main symptoms: mouth sores, a sore throat, or swollen neck glands. A child being completely healthy between episodes is a diagnostic clue.
To rule out infectious causes, a doctor will perform throat swabs for bacterial infections like strep throat, which will be negative. Blood tests taken during an episode show high levels of inflammatory markers, like C-reactive protein (CRP), that return to normal afterward. This indicates inflammation without an active infection.
Keeping a detailed fever diary is helpful for diagnosis. This log should track the dates, maximum temperature, duration, and all associated symptoms of each fever. This calendar helps the doctor see the fever’s cyclical nature.
Understanding the Causes
The precise cause of PFAPA syndrome has not yet been identified, but it is an autoinflammatory condition, not an autoimmune one. This means the condition is driven by an abnormal activation of the body’s innate immune system without a trigger like a virus or bacteria. This activation leads to the release of substances that cause inflammation and fever.
PFAPA is not contagious and cannot be passed from one person to another. There is some evidence to suggest a potential genetic link, as the syndrome can occasionally be seen in multiple family members. However, unlike other hereditary fever syndromes, a specific gene has not been identified for PFAPA.
Treatment and Management Strategies
Management of PFAPA syndrome focuses on stopping an episode once it has started and, in some cases, preventing future episodes. For aborting an active episode, a single dose of a corticosteroid, such as prednisone, given at the first sign of a fever can be effective. This treatment can resolve the fever and other symptoms within hours, though it may shorten the interval between episodes in some children.
When episodes are frequent and disruptive, a physician might suggest a preventative medication. Daily medications such as cimetidine or colchicine have been used to try to reduce the frequency and severity of the fever episodes. These treatments are not always successful but can be helpful for some children.
A definitive long-term solution is a tonsillectomy, a surgical procedure to remove the tonsils, sometimes along with the adenoids. This surgery has been shown to lead to complete resolution of the syndrome in a high percentage of patients. This option is considered when medical treatments are not effective or when the episodes impact quality of life.
PFAPA is not a dangerous condition and does not cause long-term complications. The syndrome resolves on its own over time. Children typically outgrow the condition during their second decade of life, with the episodes becoming less frequent and eventually stopping.