Pediatric Rheumatology

Pediatric rheumatology is a specialized branch of medicine that undertakes the diagnosis, treatment, and long-term follow-up of inflammatory and autoimmune diseases affecting joints, connective tissue, muscles, and internal organs during childhood and adolescence. Rheumatic diseases arise as a result of the immune system mistakenly reacting against the body's own tissues. Rheumatic diseases in children exhibit different clinical features than those in adults and can have significant effects on the growth and development process.

Scope of Pediatric Rheumatology

The pediatric rheumatology department covers a wide group of diseases such as juvenile idiopathic arthritis, systemic lupus erythematosus, juvenile dermatomyositis, vasculitis syndromes, scleroderma, periodic fever syndromes, and other autoinflammatory diseases. The common feature of these diseases is chronic inflammation, which, if left untreated, can lead to permanent joint damage, organ involvement, and growth disorders.

Pediatric rheumatologists reach an accurate diagnosis by evaluating the clinical symptoms of the disease, as well as interpreting laboratory findings, imaging methods, and biopsy results when necessary. In the treatment process, medication management, physical therapy, psychosocial support, and regular monitoring are carried out together.

Common Childhood Rheumatic Diseases

Childhood rheumatic diseases are much more common in the community than is generally thought. With early diagnosis and appropriate treatment, it is possible to control the diseases and prevent permanent damage.

• Juvenile idiopathic arthritis (JIA): It is the most common chronic rheumatic disease of childhood. It is defined by joint inflammation that begins before the age of sixteen and lasts for at least six weeks. It has subtypes such as oligoarticular, polyarticular, systemic, enthesitis-related arthritis, and psoriatic arthritis. Swelling, pain, morning stiffness, and limited movement in the joints are the main symptoms.
• Systemic lupus erythematosus (SLE): It is a chronic autoimmune disease that affects multiple organs and systems. Skin rashes, joint pain, kidney involvement, blood cell disorders, and fatigue are the most common findings. Lupus that begins in childhood usually follows a more aggressive course than in adults.
• Juvenile dermatomyositis: It is an autoimmune muscle disease that manifests itself with muscle weakness and characteristic skin rashes. Weakness in proximal muscles, heliotrope rash, and Gottron papules are typical findings.
• Vasculitis syndromes: It is a group of diseases characterized by inflammation of the blood vessels. Henoch-Schönlein purpura (IgA vasculitis) is the most common type of vasculitis in children. It presents with reddish-purple rashes on the legs and buttocks, joint pain, abdominal pain, and sometimes kidney involvement. Kawasaki disease is a serious form of vasculitis that is seen especially in children under five years of age and can affect the coronary arteries.
• Scleroderma: It is a disease characterized by hardening and fibrosis in the skin and internal organs. It has localized (morphea) and systemic forms. The localized form is more common in children.
• Periodic fever syndromes: Autoinflammatory diseases such as Familial Mediterranean Fever (FMF), PFAPA syndrome, mevalonate kinase deficiency, and TRAPS are characterized by fever attacks that recur at regular intervals. FMF is quite common in Turkey, and MEFV gene mutation carriage is frequent in the population.
• Reactive arthritis: It is joint inflammation that develops after infections. It usually occurs following upper respiratory tract or gastrointestinal infections.
• Acute rheumatic fever: It is an inflammatory disease that develops after a streptococcal infection and can affect heart valves. Joint pain, fever, skin findings, and cardiac involvement are the main symptoms.
• Macrophage activation syndrome (MAS): It is a life-threatening complication of rheumatic diseases. It presents with high fever, hepatomegaly, pancytopenia, and coagulation disorders, and requires emergency intervention.

Diagnostic Methods

In pediatric rheumatology, the diagnostic process begins with a detailed medical history and a comprehensive physical examination. A single test is not sufficient for the diagnosis of rheumatic diseases; clinical findings must be evaluated together with laboratory and imaging results.

• Laboratory examinations: Complete blood count, erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), liver and kidney function tests, immunoglobulin levels, complement levels, and ferritin values are the basic blood tests.
• Autoantibody tests: Autoimmune markers such as antinuclear antibody (ANA), rheumatoid factor (RF), anti-CCP, anti-dsDNA, anti-Smith, anti-SSA, and anti-SSB are guiding in diagnosis and disease classification.
• Genetic tests: MEFV, MVK, TNFRSF1A, and NLRP3 gene mutation analyses support the diagnosis in periodic fever syndromes. The HLA-B27 test is important in enthesitis-related arthritis.
• Imaging methods: Joint ultrasonography is a sensitive and radiation-free method for showing joint inflammation and fluid accumulation. Magnetic resonance imaging is used for detailed evaluation of joint, muscle, and internal organ involvement. Direct radiographs are helpful in detecting chronic joint damage.
• Joint fluid analysis: In suspected cases, fluid can be taken from the joint for microbiological, crystal, and cytological examination.
• Skin and kidney biopsy: Biopsy may be performed to classify kidney involvement in lupus, to evaluate muscle pathology in dermatomyositis, and to confirm skin changes in scleroderma.
• Capillaroscopy: It is the microscopic examination of nailfold capillaries. It is used in the evaluation of vascular changes in diseases such as Raynaud's phenomenon, scleroderma, and dermatomyositis.
• Eye examination: Regular eye examination is mandatory due to the risk of chronic anterior uveitis in JIA. Silent uveitis can be detected in the early period with a slit-lamp examination.

Treatment Approaches

The main goals of treatment in pediatric rheumatology are to control disease activity, prevent joint damage and organ involvement, reduce pain, and support the child's normal growth and development process.

Non-steroidal anti-inflammatory drugs (NSAIDs): Used as a first-line treatment to relieve joint pain and inflammation. Ibuprofen and naproxen are frequently preferred active ingredients in children.

Corticosteroids: Used to provide rapid effect in severe inflammation and organ involvement. They can be administered systemically or as intra-articular injections. Long-term use requires careful monitoring for growth retardation, osteoporosis, and metabolic complications.

Disease-modifying anti-rheumatic drugs (DMARDs): Methotrexate is the most commonly used DMARD in childhood rheumatic diseases. It prevents the progression of joint damage by suppressing disease activity. Sulfasalazine, leflunomide, and mycophenolate mofetil are among other options.

Biological agents: Biological drugs are added to the treatment in cases where an adequate response is not obtained with conventional treatments. TNF inhibitors (etanercept, adalimumab), IL-1 inhibitors (anakinra, canakinumab), IL-6 inhibitor (tocilizumab), and T-cell costimulation blockade (abatacept) are the main biological agents. These drugs have significantly improved disease control by providing targeted therapy.

Colchicine: It is the primary treatment drug for Familial Mediterranean Fever. Its regular use reduces the frequency of attacks and the risk of amyloidosis.

Physical therapy and rehabilitation: Regular exercise and physiotherapy programs are applied to maintain joint mobility, increase muscle strength, and improve functional capacity.

Psychosocial support: Living with a chronic disease is a challenging process for the child and the family. Psychological counseling, peer support groups, and school integration programs are important components of the treatment process.

When to Consult a Pediatric Rheumatologist?

It is recommended to consult a pediatric rheumatologist if your child has one or more of the following symptoms and conditions:

• Joint pain, swelling, or morning stiffness lasting longer than six weeks
• Unexplained recurrent fever attacks
• Skin rashes, redness, or color changes
• Muscle weakness or muscle pain
• Eye redness or blurred vision
• Limping or difficulty walking
• Widespread body pain and fatigue
• Coldness and color change in fingers (Raynaud's phenomenon)
• Recurrent aphthae in the mouth and genital area
• Family history of rheumatic or autoimmune disease
• High levels of inflammation markers in laboratory tests

Chronic Disease Management and Family Education

The vast majority of childhood rheumatic diseases have a chronic course and require long-term treatment and follow-up. For successful management of the disease, informing the family and their active participation in the treatment are of great importance. Regular use of medications, monitoring for side effects, updating the vaccination schedule, and infection prevention measures should be explained to families.

Rheumatic diseases can affect a child's school life, sports activities, and social relationships. Therefore, communication with the school, activity planning, and making special arrangements when necessary improve the child's quality of life. Early intervention during disease flares and regular outpatient clinic check-ups play a vital role in preventing permanent damage.

Why Koru Hospital?

The Koru Hospital pediatric rheumatology department offers comprehensive solutions to the rheumatic problems of pediatric patients with its experienced physicians specialized in this field. The most effective treatment is provided to our patients through the application of current treatment protocols, management of biological agent therapies, and multidisciplinary teamwork. Holistic patient follow-up is carried out by working in coordination with pediatric nephrology, ophthalmology, physical therapy, dermatology, and psychology departments.

In our hospital, each patient is evaluated individually, treatment plans are prepared specifically for the person, and the course of the disease is closely monitored with regular follow-up programs. Our families are always supported during the treatment process with family education programs and counseling services.

At the Koru Hospital Pediatric Rheumatology department, our specialist physicians are by your side, applying the most current approaches in the diagnosis and treatment of your child's rheumatic diseases. You can contact us to make an appointment and obtain detailed information.