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Differential Diagnosis for 16 y/o Female with Polyarticular Pain and Family History of Autoimmune Diseases

Single Most Likely Diagnosis

  • Juvenile Idiopathic Arthritis (JIA): Given the patient's age, family history of autoimmune diseases (RA, Lupus, Hashimoto's), and complaints of bilateral knee, ankle, elbow, wrist, and back pain, JIA is a strong consideration. JIA is a chronic autoimmune disease that can present with polyarticular pain and has a genetic predisposition.

Other Likely Diagnoses

  • Systemic Lupus Erythematosus (SLE): Although less common in adolescents, SLE can present with joint pain, and the family history of Lupus increases the likelihood. SLE is a multisystem autoimmune disease that can affect various organs.
  • Mixed Connective Tissue Disease (MCTD): This disease combines features of lupus, scleroderma, and rheumatoid arthritis, which could explain the patient's polyarticular pain and family history of autoimmune diseases.
  • Fibromyalgia: Although more common in adults, fibromyalgia can occur in adolescents and is characterized by widespread musculoskeletal pain, which aligns with the patient's complaints.

Do Not Miss Diagnoses

  • Infectious Arthritis: Bacterial, viral, or fungal infections can cause severe joint pain and must be considered, especially if there's a history of recent travel, exposure, or immune compromise.
  • Lymphoma or Leukemia: These malignancies can present with bone and joint pain, and although rare, they are critical to diagnose early due to their potential for severe outcomes.
  • Osteomyelitis or Septic Arthritis: Infections of the bone or joint can cause severe pain and have significant morbidity if not promptly treated.

Rare Diagnoses

  • Sarcoidosis: A multisystem granulomatous disease that can cause joint pain, among other symptoms, but is less common in adolescents.
  • Relapsing Polychondritis: A rare autoimmune disease that can cause cartilage inflammation, leading to joint pain, but is more commonly seen in adults.
  • Ehlers-Danlos Syndrome: A group of genetic disorders affecting connective tissue, which can lead to joint hypermobility and pain, but the presentation is usually more complex and involves skin and other systemic features.

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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