Summary about Disease
Wissler-Fanconi syndrome, also known as systemic juvenile idiopathic arthritis (sJIA), is a rare autoinflammatory disease that primarily affects children and adolescents. It is characterized by a recurring or persistent fever, rash, arthritis, and inflammation of various organs. It is classified as a type of juvenile idiopathic arthritis, although it's increasingly considered a distinct autoinflammatory condition rather than solely an autoimmune arthritis.
Symptoms
High spiking fevers: Often occurring once or twice a day, returning to normal or below-normal temperatures in between.
Evanescent rash: A salmon-pink macular rash that appears and disappears, often coinciding with fever spikes.
Arthritis: Joint pain and swelling, which can affect any joint but commonly involves the knees, wrists, and ankles.
Lymphadenopathy: Enlarged lymph nodes.
Hepatosplenomegaly: Enlarged liver and spleen.
Serositis: Inflammation of the lining of the heart (pericarditis) or lungs (pleuritis).
Anemia: Low red blood cell count.
Leukocytosis: Elevated white blood cell count.
Elevated inflammatory markers: Such as ESR (erythrocyte sedimentation rate) and CRP (C-reactive protein).
Macrophage Activation Syndrome (MAS): A severe and potentially life-threatening complication characterized by uncontrolled immune activation, leading to hyperinflammation and organ damage. Symptoms include persistent high fever, hepatosplenomegaly, cytopenias, elevated ferritin levels, and neurological changes.
Causes
The exact cause of Wissler-Fanconi syndrome is unknown. It is considered an autoinflammatory disease, meaning it's caused by a dysregulation of the innate immune system. Genetic factors are thought to play a role, but there is no single identified gene responsible. Research suggests that an exaggerated response to a viral or bacterial trigger may initiate the disease in genetically predisposed individuals.
Medicine Used
Nonsteroidal anti-inflammatory drugs (NSAIDs): Such as ibuprofen or naproxen, to manage fever and pain. However, they are often not effective alone in controlling the disease.
Corticosteroids: Such as prednisone, to reduce inflammation. They can be effective in controlling symptoms but have significant side effects with long-term use.
Biologic agents: These medications target specific components of the immune system and have revolutionized the treatment of sJIA. Examples include:
IL-1 inhibitors: Anakinra, canakinumab, and rilonacept block the effects of interleukin-1 (IL-1), a key inflammatory cytokine in sJIA.
IL-6 inhibitors: Tocilizumab and sarilumab block the effects of interleukin-6 (IL-6), another important inflammatory cytokine.
Disease-modifying antirheumatic drugs (DMARDs): Such as methotrexate, may be used in some cases, although their efficacy in sJIA is not as well-established as in other forms of juvenile arthritis.
Other Immunosuppressants: Calcineurin inhibitors like cyclosporine are sometimes used.
Is Communicable
No, Wissler-Fanconi syndrome is not communicable. It is not caused by an infectious agent and cannot be spread from person to person.
Precautions
There are no specific precautions to prevent Wissler-Fanconi syndrome, as the cause is unknown and it is not contagious. General health precautions, such as maintaining a healthy lifestyle and avoiding known triggers (if any are identified for an individual), may be beneficial. Individuals with sJIA and their families should:
Follow their doctor's treatment plan closely.
Be vigilant for signs of MAS and seek immediate medical attention if symptoms develop.
Receive regular check-ups to monitor for complications of the disease and its treatment.
Ensure vaccinations are up-to-date, following the guidance of their physician, as some vaccines may need to be avoided or delayed due to immunosuppressive medications.
How long does an outbreak last?
The duration of an "outbreak" or flare-up of Wissler-Fanconi syndrome can vary greatly from person to person. Some individuals may experience short, self-limiting flares lasting a few days or weeks, while others may have chronic, persistent disease activity. Without treatment, the disease can persist for years, leading to joint damage and other complications. With effective treatment, flares can be controlled, and the disease may even go into remission.
How is it diagnosed?
Diagnosis of Wissler-Fanconi syndrome is primarily clinical, based on the presence of characteristic symptoms and the exclusion of other conditions. There is no single diagnostic test. Diagnostic criteria include:
Daily (quotidian) fever of at least 2 weeks' duration.
Arthritis.
Evanescent (non-fixed) salmon-pink macular rash.
At least one of the following:
Generalized lymphadenopathy
Hepatosplenomegaly
Serositis Laboratory tests can help support the diagnosis and rule out other conditions. These tests may include:
Complete blood count (CBC) to assess for anemia, leukocytosis, and thrombocytopenia.
Erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) to measure inflammation.
Liver function tests to assess for liver involvement.
Ferritin levels, which are often markedly elevated, especially in MAS.
Other tests to rule out infections, autoimmune diseases, and malignancy.
Timeline of Symptoms
The timeline of symptoms in Wissler-Fanconi syndrome can vary, but typically follows this pattern: 1. Initial Phase: Often begins with high, spiking fevers, which may be accompanied by a salmon-pink rash. 2. Early Arthritis: Joint pain and swelling may develop soon after the onset of fever and rash, or it may be delayed. 3. Systemic Involvement: Enlargement of lymph nodes, liver, and spleen may become apparent. Serositis (inflammation of the lining of the heart or lungs) can occur at any time. 4. Chronic Phase: Without treatment, the disease can become chronic, with persistent or recurrent flares. Joint damage can occur over time. 5. Macrophage Activation Syndrome (MAS): This life-threatening complication can occur at any point in the disease course, particularly during flares.
Important Considerations
Early diagnosis and treatment are crucial to prevent joint damage and other complications.
Macrophage Activation Syndrome (MAS) is a severe and potentially fatal complication that requires prompt recognition and treatment.
Treatment options are evolving, and biologic agents have significantly improved outcomes for many patients with sJIA.
Long-term monitoring is necessary to assess disease activity, monitor for complications of treatment, and adjust therapy as needed.
A multidisciplinary approach involving rheumatologists, hematologists, immunologists, and other specialists may be necessary to provide comprehensive care.
Psychological support is important for patients and their families, as living with a chronic illness can be challenging.