Pediatric autoinflammatory syndrome

What is pediatric autoinflammatory syndrome?

Inflammation is a tool the body uses to fight off invaders, such as bacteria or viruses. In children without autoinflammatory syndromes, inflammation will improve when the invader has been eliminated.

For those with an autoinflammatory syndrome, the body may turn on inflammation cues unnecessarily or may have difficulty turning off inflammation. When this occurs, inflammation can cause damage to different organs in the body.

What are the different types of pediatric autoinflammatory syndromes?

One of the most common autoinflammatory syndromes occurring in children is called PFAPA (periodic fever, aphthous stomatitis, pharyngitis, adenitis), which is a self-limited and generally benign disease of younger children. PFAPA causes fevers lasting a few days in predictably regular intervals and can be associated with a sore throat, swollen lymph nodes and sores in the mouth. Children are generally well between episodes.

A few of the most common of autoinflammatory syndromes include:

• Behcet's disease - Often characterized by repeated episodes of painful oral and genital ulcers. It may also cause inflammation in the eyes, joints and other organs.

• Blau syndrome (juvenile sarcoidosis) - Begins early in childhood and is characterized by significant joint swelling. It may also cause different rashes and eye inflammation.

• Familial mediterranean fever (FMF) - More frequent in certain ethnic groups, FMF is often characterized by episodes of unexplained fever that may be associated with arthritis, abdominal pain and chest pain. Children often feel well between episodes.

• Systemic juvenile idiopathic arthritis - Characterized by episodes of high-grade fevers, often at night, with joint swelling and a rash that comes and goes. It can be associated with a life-threatening manifestation called macrophage activation syndrome.

• Tumor necrosis factor receptor associated periodic syndrome (TRAPS) - Characterized by episodes of recurrent fevers that often last several weeks and are associated with rashes, abdominal pain, limb pain and swelling around the eyes.

• Chronic non-bacterial osteitis (CNO) or chronic recurrent multifocal osteomyelitis (CRMO) Characterized by inflammation of the bone(s) that is not related to an infection. Children with this condition may experience unexplained fevers and bone pain. Often, the collarbone or long bones are affected.

• Cryopyrin-associated autoinflammatory syndromes (CAPS) - This includes a spectrum of diseases.

  • Familial cold autoinflammatory syndrome (FCAS)

  • Muckle-Wells syndrome (MWS)

  • Neonatal onset multisystem inflammatory disease (NOMID)

Symptoms range from episodes of a cold-induced hive-like rash to joint pain and fevers. In its most severe form, inflammation of the brain may also be seen.

Autoinflammatory syndromes are not contagious but can often be mistaken for a virus.

What are the signs and symptoms of pediatric autoinflammatory syndrome?

While each autoinflammatory syndrome has different signs and symptoms, they are often characterized by recurrent and unexplained fevers.

Fevers may also be accompanied by rashes, joint pain/swelling, sore throat, enlarged lymph nodes, mucosal ulcers, severe acne, and inflammation of the eye or the lining of the heart (pericarditis), among other symptoms.

How is pediatric autoinflammatory syndrome diagnosed?

Many of the autoinflammatory syndromes are diagnosed based on a combination of signs, symptoms and abnormal lab results. On occasion and depending on the cause, the diagnosis may be confirmed by genetic testing.

What are the causes of pediatric autoinflammatory syndromes?

Most autoinflammatory syndromes are thought to have a genetic component to them. For some people, environmental factors or infections may trigger the disease.

How is pediatric autoinflammatory syndrome treated?

Treatment depends on the autoinflammatory syndrome and the severity of symptoms. Treatment may range from close monitoring to non-steroidal anti-inflammatory medications such as ibuprofen or naproxen.

Doctors may also prescribe colchicine or biologic agents (such as anakinra, tocilizumab or anti-TNF agents).