Rheumatology‎ > ‎

Autoinflammatory diseases

Review of Systems:
        General: No fever or chills
        Skin: No new skin rash
        HEENT: No dry eyes or dry mouth, no uveitis
        Respiratory: No SOB, Cough or Hemoptysis
        Cardiac: No CP or Pericarditis
        GI: No GI Bleeding  
        Musculoskeletal: As above
        Endocrine: No DM or Thyroid illness
        Neurology: No Focal Deficit

Joint Exam:
        DIPs: no swelling or tenderness
        PIPs: no swelling or tenderness
        MCPs: no swelling or tenderness
        Wrists: no swelling or tenderness
        Elbows: no swelling or tenderness
        Shoulders: no  tenderness
        Back/Neck: no tenderness
        Hips: no  tenderness
        Knees: no swelling or tenderness
        Ankles: no swelling or tenderness
        Feet: no swelling or tenderness
ROM intact across all joint

   Skin: no rash
   HEENT: moist mucosa, no redness
   Respiratory: clear to auscultation, no crackles
   Cardiac: S1, S2 audible
   GI: abdomen soft, non-distended, bowel sound present
   Periphery: No edema
   Neurological: CN II-XII grossly intact, motor strengths good in both proximal and distal muscles of UE and LE 

Relapsing Polychondritis 

Review of Systems: 
        Auricular chondritis:  Acute pain, redness or swelling of the cartilaginous upper two-thirds of the outer ear; temporary hearing loss (conductive deafness or sensorineural hearing loss due to vasculitis)

        Nasal chondritis: Nasal septum pain, the collapse of the nasal bridge (saddle nose deformity)

        Arthritis: Joint pain, swelling (commonly ankles, wrists, hands, and feet); SI joint pain

        Eye disease: scleritis, episcleritis, uveitis, dry eyes

        Laryngotracheal bronchial disease: Hoarseness, Dysphonia, persistent dry cough, anterior neck pain, SOB, chest pain, 

        Hearing loss: Conductive or sensorineural hearing loss 

        Rash: No new skin rash (superficial thrombophlebitis, urticaria, angioedema, peripheral limb ulcers)

        Systemic vasculitis: sensorineural hearing loss, no focal deficit, no fever or chills ; abdominal or chest pain (aneurysm)

        Valvular dysfunction: Aortic valve or Mitral valve - chest pain, SOB

        Costochondritis: No chest pain 

        Associated disorders: Bencet's disease, RA, Seronegative SpA, CTD, Vasculitis, MDS, Lymphomas, Pernicous anemia, ALL, Type 1 DM, Hashimoto's/Graves'/Hypothyroidism/Leucocytoclastiv vasculitis/ Vitiligo, Posriasis, Lichen planus, IDB, PC, Retriperitoneal fibrosis, Myasthenia gravis, FMF 

  • Approach to a patient with joint pain 
    • RA - presentation pattern and diagnosis 
    • RA Classification criteria and diagnosis 
  • Understand the distinction between classification criteria and diagnosis in rheumatology?
  • Vasculitis classification 
    • Understand the classification of vasculitis?
  • Myopathic disorder 
    • Approach to a patient with muscle weakness and understand the classification for myositis.
  • ANA
    • When to order ANA? 
    • How to approach a patient with positive ANA?
  • SLE
    • SLE classification criteria evolution and the manifestation 
    • Severe manifestations of SLE
    • Cutaneous manifestations of SLE, including in the different race 
  • Understand MCTD / Overlap syndromes 

  • Crystals of Gout / CPPD 
    • How do XO inhibitors work 
  • Sarcoidosis and IgG4 diseases
    • Mechanism of hypercalcemia 
  • Overview of medications - 
    • Drug interaction of MTX and Bactrim
    • AZA and XO inhibitors
    • AZA and Warfarin

57% Specificity of 2010 Criteria of ACR/EULAR in diagnosis as against 76% of 2010 criteria, two questions
  • How does it affect the outcomes of the clinical trial 
  • If patients are initially treated with MTX or Triple therapy, how and when do you decide to back off or MTX Or HCQ would still treat other forms of inflammatory arthritis that it does not really matter? 

IL-1-related anti-inflammatory disease 
  • FMF - a gain of function of Pyrin - ready available of pyrin-inflammasome - IL1 over 
  • Familial cold autoinflammatory syndrome - a gain of function of sensor NLRP3 
  • Deficiency of IL-1 R antagonist  (DIRA)- deficiency of natural Anakinra 
  • TRAPS - TNF Receptor associated periodic fever syndrome - TNF Receptor mutation - Anit=IL1 therapy much more effective than Anti-TNF therapy 
  • VEXAS - UAB1 gene - mechanism leading to syndromes is not well characterized 
  • Is gout an autoinflammatory syndrome 
    • Polygenic than monogenic