What is the definition of PFAPA?

Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) is characterized by short episodes of illness that occur at regular time periods. The syndrome usually occurs in children younger than five years; but it has also been reported in adults. Symptoms of PFAPA include high fevers lasting three to six days occurring every 21 to 28 days, along with body aches, fatigue, mouth sores (aphthous stomatitis), sore throat (pharyngitis), and enlarged lymph nodes (cervical adenitis). In children, the symptoms of PFAPA typically go away after a few years, but in adults the symptoms may continue for years. The cause of PFAPA is unknown, but genetic causes may be involved. PFAPA usually occurs by chance and is not inherited in families. Diagnosis is based on the symptoms and a clinical examination. Treatment is focused on managing the symptoms. Options include tonsillectomy and  medication. Guidelines for the treatment of PFAPA in children have been published.

What are the alternative names for PFAPA?

  • PFAPA
  • Marshall Syndrome

What are the causes for PFAPA?

The underlying cause of PFAPA is not yet known. While it appears to involve inflammatory processes, it is not clear why episodes develop. No infection has been found to be responsible for causing PFAPA and it is not contagious. Genetic factors may be involved but PFAPA is not inherited in families.

What are the current treatments for PFAPA?

Treatment of periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) is focused on managing the symptoms and improving the quality of life for someone with this condition. Options that have been successful in improving symptoms of this condition include: oral steroids (prednisone or prednisolone), tonsillectomy with adenoidectomy and cimetidine. Guidelines have been published for the treatment of PFAPA.

Specialists involved in the care of someone with this condition include: 
  • Pediatrician or other primary care doctor
  • Otolaryngologist (ear, nose, and throat doctor)
  • Rheumatologist (autoimmune disease specialist)

How is PFAPA diagnosed?

There are no laboratory tests or imaging procedures specific to the diagnosis of PFAPA. This condition is clinically diagnosed in individuals who have a history of 3 or more episodes of fevers that last up to 5 days and recur at regular intervals without other evidence of acute illness. Pharyngitis (sore throat) plus adenopathy (swollen lymph nodes) or aphthous ulcers (canker sores) are also noted. Blood tests like white blood cell count, C-reactive protein, and erythrocyte sedimentation rate (ESR) are often elevated during an acute attack (but normal between attacks). It is important to rule out other conditions that may present with similar symptoms (for example, strep throat). The dramatic response to treatment can help to confirm the diagnosis. 
DR
Elite
Donato Rigante
Rome, IT
LC
Elite
Luca Cantarini
Siena, IT
UL
Elite
Ulla Lantto
Oulu, FI
MG
Elite
Marco Gattorno
Genoa, IT
MR
Distinguished
Marjo H. Renko
Oulu, FI
  • Condition: Children with Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis (PFAPA) Syndrome
  • Journal: Italian journal of pediatrics
  • Treatment Used: High Dosage of Pidotimod
  • Number of Patients: 22
  • Published —
This study assessed the effectiveness and safety of high dosage of Pidotimod in the treatment of children with periodic fever, aphthous stomatitis, pharyngitis, adenitis (PFAPA) syndrome (childhood syndrome that causes repeated episodes of fever, mouth sores, sore throat, and swollen lymph nodes).
  • Condition: Monogenic Autoinflammatory Diseases and PFAPA Syndrome
  • Journal: Frontiers in immunology
  • Treatment Used: anti-IL-1 agents and other biologic drugs
  • Number of Patients: 0
  • Published —
This review analyzed the treatment of the most frequent monogenic autoinflammatory diseases.
Clinical Trial
  • Status: Active, not recruiting
  • Phase: N/A
  • Intervention Type: Other
  • Participants: 48
  • Start Date: June 6, 2018
Creation of a Tool to Assess Quality of Life in Patient With Auto-inflammatory Diseases
Clinical Trial
  • Status: Recruiting
  • Phase: N/A
  • Intervention Type: Procedure
  • Participants: 38
  • Start Date: October 24, 2017
Tonsillotomy or Follow-up in PFAPA -Syndrome - Randomised, Controlled Study Using Sequential Design