Otosclerosis:
 An update on

diagnosis and treatment

ABSTRACT
Otosclerosis is a complex and progressive disease of patho- logical bone remodeling that affects
the otic capsule of the temporal bone, resulting in hearing loss. Although tradi- tional diagnostic
methods are still used, improvements in technology and research have paved the way for additional
diagnostic techniques and advancements. The traditional treatment of otosclerosis, stapes surgery,
is now being aug- mented or replaced by innovations in hearing aid technology and cochlear
implants. Earlier diagnosis of otosclerosis can occur through understanding of the cause, risk
factors, and current diagnostic testing.
Keywords: otosclerosis, hearing loss, bone remodeling, audi- ometry, cochlear implant, otic
capsule

Hearing loss affects the educational, psychological, and physical well-being of 360
million people worldwide. Otosclerosis,aprocessofprogressive pathologic bone
remodeling, is one of the more complex diseases that leads to hearing loss.2 In patients with
oto- sclerosis, aberrant bone deposits surround and adhere to the ossicles, impairing the
mechanical transmission of sound and leading to conductive hearing loss. In some patients
with advanced disease, the lesions may extend into the bony labyrinth of the inner ear,
affecting the cochlea and resulting in a mixed conductive and sensorineural hearing loss.
Histologically, otosclerosis is found in 12% of whites, with 0.3% to 0.4% of these
patients presenting with clinical symptoms.2 The prevalence is lower in blacks, Asians, and
Native Americans.3 The average age of onset is 30.2 Clinically, the ratio of occurrence is
1.5 to 2 females to 1 male.2 Otosclerosis is a progressive, insidious disease not routinely
seen in general practice. Clinicians can ben- efit from a better understanding and awareness
of the presentation, methods of diagnosis, and treatment options; so patients can be referred
and educated appropriately.

PATHOPHYSIOLOGY
Normal bone remodeling occurs at a rate of 10% per year throughout skeletal regions;
however, a normal otic capsule has very little bone remodeling—only 0.13% per year.2 In
patients with otosclerosis, bone remodeling within the otic capsule is increased, leading to
accumulation of bone deposits that damage audiologic structures and worsen normal sound
transmission. The extent of aberrant bone remodeling in the otic capsule directly correlates
to the abnormal audiologic findings.

Abnormal bone remodeling in otosclerosis occurs in three phases:


 The otospongiosis phase, which represents an increase in both osteoclast

activity and microvascularity.4

 The transitional phase, which begins with deposits of spongy bone by
osteoblasts in areas of previous bone reabsorption.4

 The otosclerotic phase, characterized by spongy bone deposits developing
into dense bone that narrows the micro- circulation previously developed in
the otospongiosis phase.4
These aberrant lesions can occur in many regions in the following areas: anterior to oval
window and stapes footplate (80%), round window (30%), pericochlear region (21%), and
anterior segment of the internal auditory canal (19%).5
CAUSES AND RISK FACTORS
Genetic influences can contribute to otosclerosis; 60% of patients report a family history of the

disease.4 Most researchers consider otosclerosis to be a condition of auto- somal dominant

inheritance with an incomplete penetration; although in 40% to 50% of patients, otosclerosis

occurred spontaneously or with variable patterns of inheritance.4,6

Clinicians should consider otosclerosis as a cause of hear- ing loss in patients who report a family
history of the disease. Hormonal conditions such as puberty, pregnancy, and menopause may be

associated with exacerbation of hear- ing loss in patients with preexisting otosclerosis.4
Researchers found estrogen receptors on otosclerotic cells, although the specific regulatory

mechanism of these receptors is unknown.7 Lippy and colleagues compared pregnant to

nonpregnant patients with otosclerosis and found no direct association between pregnancy and

exacerbation of hearing loss.8 Although additional research is needed to identify the specific
influence hormones may exhibit on hearing loss, clinicians should suspect preexisting otosclerosis

in patients who develop hearing loss during times of increased hormonal production.
 Measles

exposure is considered a risk factor for developing otosclerosis. Recent studies found viral
materials in the nucleic acid of the stapes footplates and antibodies to the measles virus in the inner

ears of patients with otosclerosis.9,10 Paradoxically, Komune and colleagues found that a

complete mRNA sequence of measles had not been isolated from any otic sample.11 The exact
etiologic function of measles in the development or progression of otosclerosis is still unknown.
Inflammation secondary to inflammatory and regulatory cytokines has been implicated in the
development of otosclerosis. Inflammatory cytokine and cytotoxic mediators are released from

spongy bone deposits during the early stages of the disease.4 Tumor necrosis factor alfa, an

inflammatory cytokine, has been found in otosclerotic bone.9 Research on this topic is in the
nascent phase and no specific inflammatory or autoimmune condition has been found to directly
cause otosclerosis.

HISTORY AND DIAGNOSTIC
 EXAMINATION


Patients with otosclerosis present with
 progressive hearing loss that is worse
 in lower

tones and/or frequencies. For
 example, patients often report diffi-
 culty hearing male

voices or vowel
 sounds in words. About 50% of
 patients also have tinnitus.4 Only

10%
 of patients report vertigo, which is not
 present unless otosclerosis has
 extended
to the inner ear, affecting the
 semicircular canals responsible for balance.2 Otosclerosis

is found bilaterally in 80% of patients; however, patients often present with unilateral
involvement early in the disease.6
An otoscopic examination typically is normal, with the exception of an increased
redness along the promontory of the tympanic membrane (Schwartz sign). The Schwartz
sign is inconsistently found in patients with otosclerosis and is not necessary for
diagnosis.12
Audiometric screenings are general assessments of hear- ing loss and can be
performed quickly in any quiet clinical setting. Clinicians can perform a number of
screenings that may aid in audiometric referral for patients with otoscle- rosis, including
questionnaires, tuning fork tests, whisper- voice test, and audioscope (Table 1). A
systematic review examined the accuracy of these commonly used screening tools in
identifying hearing loss within a clinical setting. Researchers found the Hearing Handicap
Inventory for the Elderly Screening Version, a commonly used question- naire that
quantifies hearing handicap, to accurately cor- relate to hearing loss verified on audiometric
findings.13 Although the meta-analysis was limited in quality studies regarding tuning fork
accuracies, researchers concluded tuning fork tests to be inaccurate screening tools in
identifying hearing loss of any cause due to Rinne’s inability to distinguish sensorineural
hearing loss from normal hearing and Weber’s inability to identify bilateral hearing loss.13
The whisper test and audioscope were found to have appropriate and similar diagnostic
accuracy in identifying hearing loss.13 Recent studies also have evaluated a new screening
tool, the uHear iPhone app by Unitron, and have found this app to be a useful screening
tool for identifying hearing loss across a variety of age groups.14-16 Hearing screening
should not take the place of formal audiometric testing in patients with suspected
otosclerosis or other audiologic pathologies.
Audiograms, in addition to medical history and physi- cal examination, have
traditionally been used for diag- nosis of otosclerosis.17 An audiogram measures air and
bone conductions and interactions throughout various frequencies (Hz) at various loudness
levels (dB). An audiogram that results in hearing thresholds greater than 25 dB is abnormal.
Otosclerosis typically presents with low frequency conductive hearing loss (Figure 1).18 A
loss of bone conduction at the frequency regions around 2,000 Hz (Carhart notch)
historically has been considered an indicator of otosclerosis; however, recent research has
found the Carhart notch cannot be used to confirm diagnosis.19
FIGURE 1. Audiogram of bilateral low-frequency conductive hearing loss in a patient with
otosclerosis

Otosclerosis progression can be monitored by an audio- gram because the progression of

the disease directly correlates to hearing loss. When the ossicles stiffen and the connection
between the stapes and oval window begins to change, a low-frequency mild conductive
loss (small air-bone gap) will occur (Figure 1).18 The air-bone gap is the difference between
air and bone conduction; a value greater than 10 dB is considered abnormal. As the stapes
footplate becomes fixed to the oval window, the conduc- tive loss worsens (indicated by a
widening air-bone gap) and begins to involve all frequencies.18 If cochlear lesions develop,
as is the case in 10% of patients, high-frequency sensory loss results in a mixed
sensorineural and conduc- tive hearing loss pattern on the audiogram.2,18 Extensive cochlear
progression will result in mixed hearing loss in all frequencies.
Tympanometry is the measure of acoustic energy trans- mission. Tympanograms
often are normal in patients with otosclerosis. Only in extensive cases of otosclerosis may
the patient’s tympanogram demonstrate some flattening secondary to severe ossicular
chain fixation.18
High-resolution CT is beginning to be used in diagnosis and surgical planning of
otosclerosis due to improvements in technology allowing for identification of smaller bony
lesions.17 High-resolution CT has high diagnostic sensitiv- ity and specificity, and reveals
variants in patient anatomy and severity of disease.17 Common findings of otosclerosis on
a high-resolution CT include areas of increased bony radiolucency in the otic capsule
around the anterior foot- plate, thickening of the stapes, and widening of the oval window.17
High-resolution CT also can reveal cochlear involvement by demonstrating a
demineralized area outlin- ing the cochlea (double-ring sign).17 The main disadvantage to
the use of this test is its high cost.
TREATMENT
Stapes surgery restores the mechanical transmission of sound through the middle ear,
correcting conductive hear- ing loss. It does not correct sensorineural hearing loss
secondary to otosclerotic extension into the cochlea. Stapes surgery is a minimally invasive
one-day procedure performed under general anesthesia; more recently, some surgeons have
begun to perform stapes surgery under local anesthesia.6 The two variations of the surgery
are:
 Stapedectomy, in which the stapes footplate and the crura are removed and

replaced with a prosthesis.


 Stapedotomy, in which a small hole is made in the central aspect of the

stapes footplate for the prosthesis without the removal of the structure.
Indications for stapes surgery include conductive hearing loss, air-bone gap of at
least 20 dB, speech discrimination score of 60% or greater, and good patient health.12
Contraindications include poor patient physical condition, fluctuating hearing loss with
vertigo, tympanic membrane perforation, infection, and hearing loss of 70 dB or worse
unless the patient has a speech discrimination score of 80% or better.12
Vincent and colleagues reviewed 3,050 stapedotomies and found the surgical
procedure to be safe and successful in treating conductive hearing loss in 94.2% of
patients.20 Surgical complications are rare but can include deafness, necrosis of the incus,
tympanic membrane perforation, facial nerve injury, disturbance of taste, perilymph
gusher, floating or subluxed stapes footplate, and vertigo. The surgical failure rate
commonly results from prosthesis malposition or inappropriate prosthesis length.18
Due to the progressive nature of the disease, 10% to 20% of patients will require
surgical revision.21 Who will develop disease progression or cochlear involvement can- not
be predicted. Following stapes surgery, hearing loss can progress at variable and
unpredictable rates.22 Redfors and colleagues looked at 30 years poststapedectomy data and
found that 88% of patients had bilateral involvement and 66% of patients showed moderate
to profound loss secondary to progressive development of sensorineural involvement.23
Hearing aids are an alternative for patients who are not candidates for stapes surgery
or are in need of sensorineural hearing loss correction. Hearing aids amplify sound,
transmitting greater energy through the stiffened ossicles and improving sound
transmission into the inner ear. Patients with a hearing loss greater than 25 dB are candi-
dates for hearing aids.24 Hearing aids can be customized to amplify only the frequencies
that are needed based on findings from the patient’s audiometry. As otosclerosis
progresses, additional adjustments in amplification may be required. Hearing aid
technology has improved greatly over the last few years—they can be used more easily
with telephones, and some interact directly with smartphones and tablets. Federal
Communications Commission rules require cell phone companies to make phones that are
compatible with hearing aids and cochlear implants.25 Hearing aids can be very expensive
and may require mul- tiple visits to an audiologist for sizing and adjustment. Patients also
may have increased irritation and infection of the ear canal.
 Implantable hearing aids, such as middle ear implants and bone conduction
implants, are now being used in patients with otosclerosis who do not tolerate traditional
hearing aids.26 These implantable hearing aids, like traditional hearing aids, enhance the
acoustic signal transmitted to the cochlea; however, the devices are technically very
different (Table 2).
Middle ear implants amplify sound by mechanically vibrating the ossicles in which
they are surgically affixed. These devices require ossicular chain motion, which is often
limited in patients with otosclerosis due to bony deposits; therefore, middle ear implants
should only be implanted at the time of stapes surgery or after stapes surgery.27 Research
found similar improvements in hearing regardless of whether implantation occurred at the
time of stapes surgery or after stapes surgery.27 Middle ear implants are indicated for
sensorineural hearing loss and provide hearing improvement similar to traditional hearing
aids.28
Bone conduction implants are indicated for patients with conductive losses or mixed
hearing loss with minor sensorineural involvement. These devices bypass the outer and
middle ear, are attached to the temporal bone, and transmit vibrational energy directly to
the cochlea. Bone conduction implants can be implanted bilaterally but are typically
implanted unilaterally because the vibration is often strong enough to stimulate the
contralateral cochlea.29 Research conflicts on whether bone conduction implants are better
than traditional hearing aids in cor- recting conductive losses.29 Bone conduction implants
are expensive and patients should try a traditional hearing aid first.29
Cochlear implants do not amplify acoustic signals like hearing aids. These devices
convert acoustic signals to electric signals that are transmitted via electrodes to the auditory
nerve (Table 2). Bypassing the natural transmission of acoustic energy provides greater
amplification in patients with sensorineural hearing loss.26 Cochlear implants pose some
challenges in patients with otosclerosis. They may be more difficult to position surgically
and patients may have an increased risk postoperatively of cochlear ossification and facial
nerve stimulation.30,31 These factors may result in reduced functioning of the implant itself
or require more frequent implant revisions or reimplantations.32 Lenarz and colleagues
found that patients with otosclerosis and moderate-to-severe mixed hearing loss benefitted
from cochlear implants; improved hearing was measured by audiometric testing.26
Although cochlear implants are beneficial for some patients, other research suggests
that stapedotomy combined with hearing aids results in good outcomes in patients with
severe mixed hearing loss.30 This approach is recommended as first-line treatment, before
considering a cochlear implant because of the permanent nature of the implant surgery.30
In 2014, the FDA approved the first hybrid cochlear implant/hearing aid system for patients
age 18 years and older.33 The hybrid system reduces the risk of intracochlear trauma due to
implanta- tion and increases the chances of preserving some resid- ual hearing. Because of
the built-in hearing aid, the hybrid system also can amplify low-frequency hearing. More
research is needed to identify whether hybrid systems should be used as treatment before
traditional cochlear implant surgery.
Pharmacological options are not considered mainstream treatment for otosclerosis;
the efficacy of various treatments is still in question.34 Although sodium fluoride is the most
commonly prescribed medication, evidence to support its use is limited and conflicting.34
Sodium fluoride acts as an antagonist to bone remodeling and osteoclast activation
throughout the skeletal system.34 The adequate dosage of sodium fluoride required to arrest
bone remodeling in the otic capsule has yet to be determined.34 Bisphosphonates and
vitamin D also are being considered as possible future treatments for patients with
otosclerosis; however, research is in an early phase.34
CONCLUSION
Otosclerosis is a progressive yet treatable form of hear- ing loss. Improvements in
technology and research have paved the way for additional diagnostic techniques and
advancement in treatments. Understanding of this complex disease leads to earlier
diagnosis, referral, treatment, and improved patient education for those with otosclerosis.