Relapsing Polychondritis

Epidemiology

  • Sex: M=F
  • Age: peak incidence between 40-60 y/o
  • Genetics: weak association with HLA-DR4
  • Association with Other Diseases
    • 25-30% of cases have a coexistent connective tissue or autoimmune disease (juvenile RA, RA, SLE, Sjogren’s, Reiter’s syndrome, psoriasis, ankylosing spondylitis)
    • Association with malignancy (such as myelodysplastic syndromes)

Physiology

  • Cartilaginous inflamamtion with destruction in external ears, joints, nose, respiratory tract -> usually multi-focal
    • Antibodies against cartilage and type II collagen

Diagnosis

  • Biopsy of Affected Cartilage (tracheal rings, etc):
  • Ant-Cartilage Antibody: positive

Clinical Manifestations

Cartilaginous Manifestations

  • Saddle Nose Deformity (nose is involved in 54-57% of cases):
  • Bilateral Auricular Chondritis (ears are involved in 85-94% of cases): typically tender
  • Rib Involvement:

Ocular Manifestations

  • Uveitis

Vestibulocochlear Manifestations

  • Hearing Loss

Rheumatologic Manifestations

  • Non-Erosive, Seronegative Inflammatory Polyarthritis (see [[Arthritis]]): occurs in 52% of cases

Upper Airway Manifestations (involved in 31-48% of cases)

  • Upper Airway Obstruction (see [[Obstructive Lung Disease]]): usually progressive pattern of upper airway obstruction
    • Diagnosis
      • PFT’s: abnormal flow-volume loop -> upper airway obstruction pattern
      • FOB or Laryngoscopy: diagnostic for site of obstruction
        • FOB and laryngoscopy are associated with increased risk of acure airway compromise
    • Clinical
      • Thyroid Cartilage and Anterior Tracheal Tenderness
      • Hoarseness
      • Non-Productive Cough
      • Dyspnea
      • Aphonia
      • Inspiratory Stridor
      • Chronic Hypoventilation (see Chronic Hypoventilation, [[Chronic Hypoventilation]])
      • Hemoptysis

Pulmonary Manifestations (involved in 25% of cases)

  • Tracheobronchial Obstruction (see [[Obstructive Lung Disease]])
    • Epidemiology: airway obstruction is the most common cause of death
    • Diagnosis
      • CXR/Chest CT
        • Ectopic airway cartilage calcification
        • Tracheal ring thickening
        • Atelectasis or pneumonia in region of obstruction
        • Widening of aortic arch, ascending aorta, descending aorta: may be seen
      • Dynamic CT: may demonstrate expiratory airway collapse and aid in localization of site of large airway obstruction
      • PFT’s: obstructive
      • FOB: diagnostic for site of obstruction (stricture) -> also useful to rule out other causes of obstruction (such as foreign body)
        • EBB: insensitive, although may be diagnostic in some cases
        • FOB and laryngoscopy are associated with increased risk of acure airway compromise
    • Clinical
      • Subglottic Stenosis: dyspnea
      • Tracheal Stricture: dyspnea
      • Atelectasis (see [[Atelectasis]])
      • Pneumonia (see [[Pneumonia]]): may be recurrent
  • Pulmonary Vasculitis: may occur

Renal Manifestations

  • Glomerulonephritis

Cardiac Manifestations

  • Aortic Aneurysm
  • Valvular Heart Disease

Treatment

  • Management of Airway Obstruction: may require stent, tracheostomy, or surgery
    • Stents: complications include hemorrhage, tracheal erosion, ulceration, and airway obstruction
  • NSAID’s: useful for mild disease
  • Steroids: indicated for acute airway involvement
    • 75% of cases require chronic steroid therapy
    • Decrease severity/frequency/duration of flares, but do not prevent disease progression
  • Cyclophosphamide: may be used for steroid-resistant disease

Prognosis

  • 8-Year Survival: 94%
  • Despite treatment, relapse and progression are common
  • Death usually occurs from malignancy, airway compromise, infection, or systemic vasculitis
  • Respiratory involvement accounts for 10% of deaths

References

  • Relapsing Polychondritis with glomerulonephritis. Improvement with prednisone and cyclophosphamide. JAMA 1981; 245:847-8
  • Relapsing Polychondritis; clinical review. Ann Intern Med 1998; 129:114-122
  • Relapsing Polychondritis: Clinical and immunogenetic analyses of 62 patients. J Rheumatol 1997; 24:96-101
  • Relapsing polychondritis: A paraneoplastic syndrome associated with myelodysplastic syndromes. Am J Hematol 1992: Volume 40, Issue 1, pages 47–50
  • Autoimmune phenomena in myelodysplastic syndromes: a 4-yr prospective study. Rheumatology 2004;43:626–632