Recurrent Joint Swelling: Diagnosis & Management

(i) Nature of Disease and Likely Diagnosis

The nature of the disease is chronic inflammatory arthritis. Given the recurrent joint swelling in knees, elbows, and ankles following trivial injuries, coupled with a positive family history (maternal uncle with similar illness), the most likely diagnosis is Juvenile Idiopathic Arthritis (JIA), specifically the polyarticular subtype. The pattern of joint involvement (multiple large joints) and the triggering of symptoms by minor trauma are characteristic features. Other possibilities, though less likely, include systemic JIA (given the potential for systemic symptoms not mentioned here) or other connective tissue diseases.

(ii) Investigations to Confirm the Disease

A comprehensive set of investigations is required to confirm the diagnosis and rule out other conditions. These include:

• Complete Blood Count (CBC): To assess for anemia (common in chronic inflammation) and elevated white blood cell count.
• Erythrocyte Sedimentation Rate (ESR) & C-Reactive Protein (CRP): These are acute phase reactants that indicate the degree of inflammation.
• Rheumatoid Factor (RF) & Anti-Cyclic Citrullinated Peptide (Anti-CCP) antibodies: While less common in JIA than in adult rheumatoid arthritis, these can be present, particularly in the RF-positive polyarticular subtype.
• Antinuclear Antibody (ANA): To screen for systemic autoimmune diseases.
• Joint Fluid Analysis: Aspiration of joint fluid can help rule out septic arthritis and identify inflammatory cells.
• Radiographs of Affected Joints: To assess for joint damage, erosions, and growth plate abnormalities.
• HLA Typing: Certain HLA alleles (e.g., HLA-B27) are associated with specific JIA subtypes.

(iii) Medical Management in this Young Patient

The medical management of JIA aims to control inflammation, relieve pain, maintain joint function, and prevent long-term disability. The approach is multi-faceted:

• Non-Pharmacological Management:
  • Physical Therapy: To maintain range of motion and muscle strength.
  • Occupational Therapy: To help with activities of daily living.
  • Splinting: To support and protect affected joints.
• Pharmacological Management:
  • Nonsteroidal Anti-inflammatory Drugs (NSAIDs): First-line treatment for pain and inflammation. (e.g., Ibuprofen, Naproxen)
  • Disease-Modifying Antirheumatic Drugs (DMARDs): Used to slow disease progression.
    • Methotrexate: Often the first DMARD used in JIA.
    • Sulfasalazine: Can be used in milder cases.
  • Biologic DMARDs: Used in cases refractory to conventional DMARDs. (e.g., TNF inhibitors like Etanercept, Adalimumab; IL-6 inhibitors like Tocilizumab)
  • Corticosteroids: Used for short-term control of inflammation, but long-term use should be avoided due to side effects.

Treatment should be individualized based on the JIA subtype, disease severity, and response to therapy. Regular monitoring for drug side effects is essential.

(iv) Advice for his Mother

The mother should receive comprehensive advice regarding the following:

• Medication Adherence: Emphasize the importance of giving medications as prescribed, even when the child is feeling well.
• Monitoring for Side Effects: Educate her about potential side effects of medications and when to seek medical attention.
• Importance of Physical Activity: Encourage regular, low-impact exercise to maintain joint mobility and muscle strength.
• Joint Protection: Teach her strategies to protect joints during daily activities.
• Regular Follow-up: Stress the need for regular visits with the rheumatologist and other healthcare professionals.
• Psychosocial Support: Acknowledge the emotional impact of chronic illness on the child and family and encourage seeking support from support groups or mental health professionals.
• Early Recognition of Flare-ups: Educate her on recognizing signs of disease flare-ups (increased joint swelling, pain, stiffness) and prompt medical attention.