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A. Characteristics

  1. Rare disorder
  2. Vestibuloauditory Dysfunction
  3. Interstitial Keratitis (non-syphilitic)
  4. Vasculitis in ~10% of cases
  5. May involve aorta or coronary vessels in ~10% of cases

B. Etiology

  1. Likely an autoimmune disease with autoantibodies
  2. Anti-DEP-1/CD148 Antibodies [3]
    1. Cell-density enhanced protein tyrosine phosphatase-1
    2. Expressed on sensory epithelia of innter ear and on endothelial cells
    3. Autoantibodies specific for this protein found in Cogan syndrome patients
    4. These patient autoantibodies also bind Connexin 26
    5. Patient autoantibodies reproduced Cogan symptoms in mice
  3. Connexin 26 gene mutations lead to congenital inner-ear deafness
  4. Relationship to develpment of disease and upper respiratory infections
  5. Questionable relationship to Chlamydia infection [2]

C. Symptoms

  1. Auditory - deafness, tinnitus, vertigo [4]
  2. Ocular - interstitial keratitis, iritis
  3. Vascular
    1. Coronary disease - angina
    2. Aortic valve dysfunction (including root dilatation)
    3. Aneurysms
    4. Stenosis - renal arteries
  4. Systemic Symptoms
    1. Weight loss
    2. Fevers

D. Treatment

  1. Glucocorticoids
    1. Initiate therapy with 1-2mg/kg prednisone qd
    2. Taper off slowly
  2. Alkylating Agents - cyclophosphamide 2mg/kg po qd
  3. Cyclosporine appears to be effective for severe ocular and vascular disease [5]
  4. Azathioprine may be used as a glucocorticoid "sparing" agent
  5. Unclear at this time if antibiotics against chlamydia will be beneficial

References

  1. Romain PL and Aretz HT. 1999. NEJM. 340(8):635 (Case Record)
  2. Clair EW St and McCallum RM. 1999. Curr Opin Rheumatol. 11:47
  3. Lunardi C, Bason C, Leandri M, et al. 2002. Lancet. 360(9337):915 abstract
  4. Baloh RW. 1998. Lancet. 352(9143):1841 abstract
  5. Allen NB, et al. 1990. Am J Med. 88:296 abstract