What is PFAPA syndrome?

PFAPA syndrome is characterized mainly by recurrent fever, accompanied by oral thrush or adenopathy, and tonsillitis.

It is an autoinflammatory disease that is one of the most common recurrent fever syndromes in childhood and was first described by Marshall in 1987. The acronym SFAPA encompasses the main symptoms of the disease: Periodic Fever, Aphtous stomatitis, Pharyngitis and Adenopathy.

It is estimated that PFAPA syndrome affects 2.5-3/10,000 children annually. It usually affects more boys than girls, but all ethnicities are equally affected and, although it is not a disease suffered only by children, its onset is usually between the ages of 2 and 5 years.

PFAPA syndrome causes recurrent episodes of fever in young children.

Prognosis of the disease

PFAPA syndrome is an autoinflammatory disease, so it must be closely monitored by the pediatrician. However, unlike other autoinflammatory diseases, it is considered benign, as it does not present complications and does not affect the development and growth of the child.

Symptoms of PFAPA syndrome

PFAPA syndrome is characterized by episodes of high fever lasting 3 to 6 days. These are outbreaks that appear regularly, often predictable by parents, and are accompanied by aphthous ulcers in the mouth, laterocervical adenopathies, pharyngitis and tonsillitis, without any other tumor, infectious or autoimmune cause. Sometimes it is also accompanied by mild abdominal pain, headache or leg pain, which is usually related to fever.

The fever suffered by children is very high, and starts abruptly, reaching temperatures of 41-42 degrees, and lasting between 3-6 days.

Outbreaks usually last 3-7 days, with an average duration of 4 days, and there is an interval between outbreaks of about 2-8 weeks (usually 4 weeks) when children have no symptoms. The intervals between outbreaks are usually regular, and parents can sense when they will recur. However, over time these intervals become more irregular.

Medical tests for PFAPA syndrome

Diagnosis is based on the clinical criteria proposed by Marshall (who first described the disease), and modified a posteriori by Thomas. However, the diagnosis must be differential to other possible causes of recurrent fever.

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Normally, if the child suffers from PFAPA syndrome, it is typical that he/she has a good response to the administration of a single dose of oral corticosteroid and the symptoms disappear. This can help in the diagnosis, since the rest of the pathologies that produce periodic fever do not respond so well.

However, other pathologies and/or processes should be ruled out:

  • Cycillagenic neutropenia.
  • Other immunodeficiencies that may cause recurrent infections.
  • Other relapsing fever syndromes, since some diseases that give recurrent fever may be underdiagnosed, sharing symptoms with PFAPA syndrome. Some may include: FMF (digestive clinic with abdominal pain, arthritis, polyserositis, erythrema erysipeloides), TRAPS (myalgias, prolonged fever, periorbital edema), DMVK (diarrhea, outbreaks after vaccination, cervical adenopathy) or CAPS (urticariform rash, ponderosal involvement, deafness).
  • Infections: infectious pharyngotonsillitis without response to corticosteroids.
  • Other inflammatory diseases: systemic lupus erythematosus, Behçet’s disease, systemic juvenile idiopathic arthritis.
  • Other chronic infections: borreliosis or brucellosis.
  • Neoplasms, especially leukemia and lymphomas.

What are the causes of PFAPA syndrome?

The causes are unknown, although genetic (non-monogenic) and hereditary factors have been considered as possible influences. Also, the fact that the innate immune system is deregulated seems to play a key role in the development of the disease.

Despite being an autoinflammatory disease, the existence of genetic mutations has not been demonstrated, but recent studies describe several genetic variants in genes that modulate the inflammatory response.

Can it be prevented?

If the episodes of fever are very frequent, drugs can be used to prevent their onset and reduce the symptoms.

Treatments for PFAPA syndrome

Treatment is mainly focused on controlling outbreaks with the administration of a single dose of oral corticosteroids. If the episodes occur too often, drugs such as vitamin D or colchicine can be used to prevent the onset and thus reduce the intensity of the symptoms.

The main thing is to make the outbreaks disappear as soon as possible. Anti-inflammatory drugs do not control the symptoms, so glucocorticoids are used to stop the attacks. Usually one dose is enough to control the symptoms, fever being the first thing to go, but sometimes a second dose is required.

Which specialist treats it?

The specialist who treats PFAPA syndrome is the Pediatrician, specialized in Pediatric Rheumatology.