Autoimmune Inner Ear Disease

Autoimmune inner ear disease (AIED), also called autoimmune sensorineural hearing loss (ASNHL), is characterized by bilateral, rapidly progressive sensorineural hearing loss over a period of weeks to months. No single laboratory test is recommended for the evaluation of AIED; however, testing may be useful to rule out alternate etiologies associated with hearing loss.

Diagnosis

Indications for Testing

  • Appropriate clinical presentation
  • Exclusion of other causes of hearing loss, including Ménière disease, other autoimmune diseases (with associated hearing loss), otosclerosis, retrocochlear disorders, and infectious diseases such as syphilis and Lyme disease

Criteria for Diagnosis

  • Berrocal criteria – autoimmune inner ear disease (AIED) considered if three major or two major plus more than two minor criteria fulfilled (Berrocal, 2002)
    • Major criteria
      • Bilateral
      • Autoimmune systemic disease
      • Antinuclear antibodies (ANA) positive
      • Low number of T cells
      • Recovery of >80% of hearing
    • Minor criteria
      • Unilateral
      • Pediatric age
      • Female
      • Anti-68 kDa antibodies
      • Good response to steroid therapy (hearing recovery rate <80%)

Initial Testing

  • Audiology – initial testing for pure tones, speech discrimination, tympanometry, acoustic reflex testing
  • Vestibular symptoms present – test for pursuit, saccade optokinetic nystagmus, positional and spontaneous nystagmus, caloric stimulation, rotation chair stimulation

Laboratory Testing

  • Diagnosis of AIED is based on clinical findings
  • Specific autoimmune hearing loss testing
    • Heat shock protein 70 (HSP70)
      • Poor sensitivity and specificity
      • Testing helpful if positive; however, negative result does not rule out autoimmune hearing loss
      • HSP70 positivity is an indicator of steroid responsiveness of the disease
      • Subset of patients with AIED who are HSP70 antibody negative may respond to steroid treatment
    • Cochlin antibody testing
      • Helpful if HSP70 is negative

Differential Diagnosis

Background

Epidemiology

  • Prevalence
    • Rare disease, accounting for <1% of all cases of hearing impairment
    • True prevalence unknown
  • Age
    • Peak onset in 20s-40s
    • Rare in pediatric ages
  • Sex – M:F ratio unknown due to low prevalence of disease

Pathophysiology

  • Inner ear cells are delicate and have limited ability for regeneration and repair
  • Disruption of regulating mechanisms may cause substantial damage to inner ear structures, resulting in loss of hearing function
  • Both cell-mediated and antibody responses have been associated with autoimmune inner ear disease (AIED); immune response may cause substantial damage to inner ear structures
  • Possible antibodies involved in AIED
    • Heat shock protein 70 (HSP70) – also known as anti-68kDa antigen
    • Cochlin protein
    • Choline transporterlike protein 2
    • Myelin protein P0
    • Beta-tectorin

Clinical Presentation

ARUP Lab Tests

Primary Test

Not recommended for evaluation of general hearing loss

Related Tests

Preferred reflex panel for managing patients with a known diagnosis of vasculitis; may be assistive in evaluating suspected vasculitis

For the workup of suspected vasculitis, the preferred panel is antineutrophil cytoplasmic antibodies (ANCA)-associated vasculitis profile (ANCA/MPO/PR3) with reflex to ANCA titer

Panel includes ANCA, IgG; myeloperoxidase antibody; and serine proteinase 3 antibody

Aid in initial diagnosis of connective tissue disease

Aid in prognostication for rheumatoid arthritis

Rheumatoid arthritis panel is preferred for the workup of suspected rheumatoid arthritis or undifferentiated inflammatory arthritides

Assess thyroid function

Identify risk in patients with palpable thyroid nodules

Not an optimal confirmation test; Treponema pallidum antibody by particle agglutination (TP-PA) is preferred

Fluorescent treponemal antibody (FTA) tests for syphilis may be falsely positive in some cases of systemic lupus erythematosus, pregnancy, and leprosy

Preferred reflex test to detect Lyme disease in individuals with ≤4 weeks of clinical symptoms or exposure to tick

Although the test has been shown to have a high degree of reliability for diagnostic purposes, laboratory data should always be correlated with clinical findings

Preferred reflex test to detect Lyme disease in individuals with >4 weeks of clinical symptoms or exposure to tick

Diagnose and monitor diabetes mellitus

Monitor prediabetes

Unstable hemoglobins or hemolytic anemia may yield falsely low results

Iron deficiency anemia may yield falsely high results

Provides accurate results for HbA1c in the presence of hemoglobin variants when hemoglobin A is also present

In patients with known hemoglobin variants without hemoglobin A, monitoring of long-term glycemic control with fructosamine is suggested

Screen for presence of HIV infection

Preferred test for evaluation of inflammation (eg, autoimmune disease, connective tissue disease, rheumatoid arthritis, infection, or sepsis)

Nonspecific test used to detect inflammation associated with infections, cancers, and autoimmune diseases

Preferred test for screening and monitoring of thyroid function

Medical Experts

Contributor

Couturier

Marc Roger Couturier, PhD, D(ABMM)
Associate Professor of Clinical Pathology, University of Utah
Medical Director, Parasitology/Fecal Testing, Infectious Disease Antigen Testing, Bacteriology, and Molecular Amplified Detection, ARUP Laboratories
Contributor

Slev

Patricia R. Slev, PhD
Associate Professor of Clinical Pathology, University of Utah
Section Chief, Immunology; Medical Director, Immunology Core Laboratory, ARUP Laboratories
Contributor
Contributor

References

Additional Resources
Resources from the ARUP Institute for Clinical and Experimental Pathology®