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
Vestibulocochlear Manifestations
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
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