PFAPA Syndrome

Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis

Summary

PFAPA is short for Periodic Fever (= fever), Aphtous (= aphthous ulcers/sores in the mouth) stomatitis (inflammation in the mouth), Pharyngitis (inflammation of the throat) and adenitis (enlarged lymph nodes in the neck). The disease is characterized by recurrent episodes of fever and usually starts in early childhood (2 to 4 years). This disease has a chronic course, but is a benign disease with a tendency toward improvement over time. The cause is unknown. To date, it’s not known how many cases of PFAPA there are.

Symptoms

The main symptom is recurrent fever accompanied by a sore throat, mouth ulcers and/or enlarged lymph nodes in the neck. The episodes of fever start suddenly and last for several days, usually 3 to 6 days. During these episodes, the child appears very ill and complains of at least one of the three symptoms described above. The fever episodes recur every few weeks. In between these periods, the child has no symptoms and his/her activity level is normal. The course of the child’s disease, in which his/her health appears perfect between the episodes, is not consistent.  The different symptoms described above are found in all children with this disease. However, there are children who have a mild form of this disease, or there may be additional symptoms, such as malaise, joint pain, abdominal pain, headache, vomiting, diarrhoea or coughing.

Cause

It is not yet known what causes this disorder. During the episodes of fever, the immune system, which normally protects us from infections, is activated. This activity leads to inflammatory responses with fever, inflammation in the mouth and/or throat. The inflammatory response stops on its own, after which no signs of inflammation are found between two episodes. No bacteria have been found during episodes.

Inheritance

In exceptional cases, cases within families are described, but no genetic cause has been found. Even if infectious substances play a role in PFAPA syndrome, it is not an infectious disease and is not contagious.

Diagnosis

There are no laboratory tests specific for the diagnosis of PFAPA. The disease is

diagnosed based on the clinical symptoms. Before the diagnosis can be made,

all other diseases with similar symptoms must be excluded.

Treatment

There is no specific treatment to cure PFAFA syndrome. The aim of the treatment is to control symptoms during the episodes of fever. In a high percentage of cases, the disease will disappear spontaneously over time.

Symptoms usually do not respond well to paracetamol or non-steroidal anti-inflammatory drugs. (NSAID) A single dose of prednisone given when the symptoms first start, shortens the episodes. However, the time between episodes is also shortened with this treatment, and the next episode of fever occurs earlier than expected. In some patients, removal of the tonsils may reduce the symptoms.

Prognosis

The child will have the disease for several years. Over time, the interval between fever attacks will increase and eventually the symptoms will resolve spontaneously. In the long-term, PFAFA is self-limited, usually before adulthood. Patients with PFAFA do not develop any damage, despite the long development of the disease. The child’s growth and development are usually unaffected by the disease.