What are the other Names for this Condition? (Also known as/Synonyms)

• Jabs Syndrome
• Juvenile Systemic Granulomatosis
• PGA (Pediatric Granulomatous Arthritis)

What is Pediatric Granulomatous Arthritis? (Definition/Background Information)

• Pediatric Granulomatous Arthritis (PGA) is a rare autoinflammatory disorder that affects the joints and causes arthritis in children. It is characterized by the presence of granulomas, which are aggregations of inflammatory cells, in and around the joints
• Pediatric Granulomatous Arthritis is caused by mutations in the NOD2 gene. It is inherited in an autosomal dominant pattern. Therefore, a positive family history of PGA is a risk factor for developing the same
• The signs and symptoms of Pediatric Granulomatous Arthritis may include joint pain and stiffness, swollen and warm joints, fever, fatigue, weight loss, and the presence of granulomas. These granulomas can also occur in sites other than the joints
• PGA is diagnosed by a pediatric rheumatologist, pediatrician, or other pediatric specialist based on the signs and symptoms, physical examination, laboratory test results, and imaging studies. A biopsy may also be performed to confirm the presence of granulomatous inflammation
• The complications of Pediatric Granulomatous Arthritis may include joint damage, growth retardation, and chronic pain. In some cases, the granulomas can occur in other organs such as eyes, lungs and skin which can cause additional (serious) complications
• The treatments for Pediatric Granulomatous Arthritis may include non-steroidal anti-inflammatory drugs (NSAIDs), corticosteroids, immunosuppressants, and biologic therapy. In some cases, surgery may be required to remove granuloma-involved tissue, or to repair the damaged joints
• As the exact cause of Pediatric Granulomatous Arthritis is unknown, it is currently not possible to prevent the disorder. However, early diagnosis and treatment can help prevent the development of long-term joint damage
• The prognosis for children with Pediatric Granulomatous Arthritis varies depending on the severity of the disorder and the effectiveness of treatment. With prompt diagnosis and treatment, most cases can be managed to prevent long-term joint injury

Who gets Pediatric Granulomatous Arthritis? (Age and Sex Distribution)

• Pediatric Granulomatous Arthritis is a rare disorder that primarily affects children, although it can also occur in adults
• It is more common in males than females
• Worldwide, no racial or ethnic predilection is observed

What are the Risk Factors for Pediatric Granulomatous Arthritis? (Predisposing Factors)

The main risk factor for developing Pediatric Granulomatous Arthritis (PGA) include:

• Having family history of PGA
• Presence of other autoinflammatory disorders
• A specific genetic mutation in the NOD2 gene. The gene is sometimes termed CARD15/NOD2
• Underlying medical conditions

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others. 

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Pediatric Granulomatous Arthritis? (Etiology)

The cause of Pediatric Granulomatous Arthritis (PGA) is presently unknown. PGA is grouped in the family of autoinflammatory disorders.

• Some cases may be associated with underlying infections, genetic mutations, or other underlying medical conditions
• In patients with familial mutations involving the NOD2 gene and with the signs and symptoms of PGA, the disorder is termed BLAU Syndrome
• In patients with a similar disease pattern of Pediatric Granulomatous Arthritis, and a new mutation (hence, not inherited from the parents), the term Early-Onset Sarcoidosis is used

There are other pediatric conditions that present granulomatous inflammation yet are different from Pediatric Granulomatous Arthritis (PGA). One example is chronic granulomatous disease (CDG); CDG does not have mutations in the NOD2 gene. As is often the case in medical terminology and disease names, it can lead to confusions.

What are the Signs and Symptoms of Pediatric Granulomatous Arthritis?

The signs and symptoms of Pediatric Granulomatous Arthritis may include:

• Joint pain and stiffness
• Swollen and warm joints, particularly wrists knees and ankles
• Fever, usually developing by age 4
• Fatigue
• Weight loss
• A scaly rash on the face, chest, or other sites of the trunk is an early symptom often seen by age 4 months of the child
• Cranial nerve disorders, including inflammation of the optic (eye) nerve
• Uveitis and conjunctivitis (inflammation of the eye), retinal inflammation, or inflammation of the lachrymal glands (tear glands)
• Inflammation of the pericardium surrounding the heart and pulmonary inflammation
• Inflammation of the liver, spleen, and/or kidneys, with or without abdominal pain
• Inflammation of the small arteries

How is Pediatric Granulomatous Arthritis Diagnosed?

Pediatric Granulomatous Arthritis (PGA) is diagnosed by a pediatric rheumatologist, other pediatric specialist, or pediatrician based on the presenting symptoms, physical examination, laboratory test results, and imaging studies.

• A biopsy may be performed to confirm the presence of granulomas
• Genetic testing for mutation of the NOD2 gene may be undertaken
• Biopsies of internal organs or other involved organs may be needed
• Radiographic (imaging) studies as required to determine internal involvement may be needed
• Other laboratory tests which can be useful in the diagnosis and management of PGA are C-reactive protein (CRP), erythrocyte sedimentation ratio (ESR), angiotensin-converting enzyme (ACE), immunoglobulins, liver function tests, and urinalysis

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Pediatric Granulomatous Arthritis?

The complications of Pediatric Granulomatous Arthritis may include:

• Joint deformity, noted in as many as 80% of the cases
• Growth delays
• Chronic pain
• Patients with eye involvement have a high risk of developing glaucoma and cataracts, resulting in blindness
• Involvement of the liver, kidneys, or spleen can have complications related to the specific organ(s) involved
• Decreased quality of life

How is Pediatric Granulomatous Arthritis Treated?

The treatment for Pediatric Granulomatous Arthritis may include the following:

• Non-steroidal anti-inflammatory drugs (NSAIDs)
• Corticosteroids
• Immunosuppressants
• Biologic therapy
• In some cases, surgery may be required to remove granulomas or repair the damaged joints

How can Pediatric Granulomatous Arthritis be Prevented?

• Pediatric Granulomatous Arthritis is a genetic disorder, and it is currently not possible to prevent the same
• Early diagnosis and treatment can help prevent the development of complications and long-term joint damage

What is the Prognosis of Pediatric Granulomatous Arthritis? (Outcomes/Resolutions)

• The prognosis for children with Pediatric Granulomatous Arthritis varies depending on the severity of the disorder and the effectiveness of treatment
• With proper management of the condition, the signs and symptoms can be managed in most of the cases, avoiding long-term complications including joint injuries

Additional and Relevant Useful Information for Pediatric Granulomatous Arthritis:

The following link is a useful resource for information on chronic granulomatous disease:

https://www.dovemed.com/diseases-conditions/chronic-granulomatous-disease/