otospongiosis
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Otosclerosis is a condition of the middle and
inner ear The inner ear (internal ear, auris interna) is the innermost part of the vertebrate ear. In vertebrates, the inner ear is mainly responsible for sound detection and balance. In mammals, it consists of the bony labyrinth, a hollow cavity in the ...
where portions of the dense enchondral layer of the
bony labyrinth The bony labyrinth (also osseous labyrinth or otic capsule) is the rigid, bony outer wall of the inner ear in the temporal bone. It consists of three parts: the vestibule, semicircular canals, and cochlea. These are cavities hollowed out of the ...
remodel into one or more lesions of irregularly-laid spongy bone. As the lesions reach the
stapes The ''stapes'' or stirrup is a bone in the middle ear of humans and other tetrapods which is involved in the conduction of sound vibrations to the inner ear. This bone is connected to the oval window by its annular ligament, which allows the f ...
the bone is resorbed, then hardened ( sclerotized), which limits its movement and results in
hearing loss Hearing loss is a partial or total inability to hear. Hearing loss may be present at birth or acquired at any time afterwards. Hearing loss may occur in one or both ears. In children, hearing problems can affect the ability to acquire spo ...
,
tinnitus Tinnitus is a condition when a person hears a ringing sound or a different variety of sound when no corresponding external sound is present and other people cannot hear it. Nearly everyone experiences faint "normal tinnitus" in a completely ...
,
vertigo Vertigo is a condition in which a person has the sensation that they are moving, or that objects around them are moving, when they are not. Often it feels like a spinning or swaying movement. It may be associated with nausea, vomiting, perspira ...
or a combination of these. The term otosclerosis is something of a misnomer: much of the clinical course is characterized by lucent rather than sclerotic bony changes, so the disease is also known as otospongiosis.


Etymology

The word ''otosclerosis'' derives from
Greek Greek may refer to: Anything of, from, or related to Greece, a country in Southern Europe: *Greeks, an ethnic group *Greek language, a branch of the Indo-European language family **Proto-Greek language, the assumed last common ancestor of all kno ...
ὠτός (''ōtos''), genitive of οὖς (''oûs'') "ear" + σκλήρωσις (''sklērōsis''), "hardening".


Presentation

The primary form of hearing loss in otosclerosis is
conductive hearing loss Conductive hearing loss (CHL) is a type of hearing impairment that occurs when sound waves are unable to efficiently travel through the outer ear, tympanic membrane (eardrum), or middle ear structures such as the ossicles. This blockage or dysfun ...
(CHL) whereby sounds reach the ear drum but are incompletely transferred via the ossicular chain in the middle ear, and thus partly fail to reach the
inner ear The inner ear (internal ear, auris interna) is the innermost part of the vertebrate ear. In vertebrates, the inner ear is mainly responsible for sound detection and balance. In mammals, it consists of the bony labyrinth, a hollow cavity in the ...
(
cochlea The cochlea is the part of the inner ear involved in hearing. It is a spiral-shaped cavity in the bony labyrinth, in humans making 2.75 turns around its axis, the modiolus (cochlea), modiolus. A core component of the cochlea is the organ of Cort ...
). This can affect one ear or both ears. On
audiometry Audiometry () is a branch of audiology and the science of measuring hearing acuity for variations in sound intensity and pitch and for tonal purity, involving thresholds and differing frequencies. Typically, audiometric tests determine a subje ...
, the hearing loss is characteristically low-frequency, with higher frequencies being affected later.
Sensorineural hearing loss Sensorineural hearing loss (SNHL) is a type of hearing loss in which the root cause lies in the inner ear, sensory organ (cochlea and associated structures), or the vestibulocochlear nerve (Cranial nerves, cranial nerve VIII). SNHL accounts for a ...
(SNHL) has also been noted in patients with otosclerosis; this is usually a high-frequency loss, and usually manifests late in the disease. The causal link between otosclerosis and SNHL remains controversial. Over the past century, leading otologists and neurotologic researchers have argued whether the finding of SNHL late in the course of otosclerosis is due to otosclerosis or simply to typical presbycusis. Most patients with otosclerosis notice tinnitus (head noise) to some degree. The amount of tinnitus is not necessarily related to the degree or type of hearing impairment. Tinnitus develops due to irritation of the delicate nerve endings in the inner ear. Since the nerve carries sound, this irritation is manifested as ringing, roaring or buzzing. It is usually worse when the patient is fatigued, nervous or in a quiet environment.


Causes

Otosclerosis can be caused by both genetic and environmental factors, such as a viral infection (like measles).
Ribonucleic acid Ribonucleic acid (RNA) is a polymeric molecule that is essential for most biological functions, either by performing the function itself (non-coding RNA) or by forming a template for the production of proteins ( messenger RNA). RNA and deoxyr ...
of the measles virus has been found in the stapes footplate of most patients with otosclerosis. Populations that have been vaccinated against measles had a significant reduction in otosclerosis. While the disease is considered to be hereditary, its
penetrance Penetrance in genetics is the proportion of individuals carrying a particular variant (or allele) of a gene (genotype) that also expresses an associated trait (phenotype). In medical genetics, the penetrance of a disease-causing mutation is the pr ...
and the degree of expression is so highly variable that it may be difficult to detect an inheritance pattern. Most of the implicated genes are transmitted in an
autosomal dominant In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The firs ...
fashion. One genome-wide analysis associates otosclerosis with variation in the '' RELN'' gene. Loci include:


Pathophysiology

The pathophysiology of otosclerosis is complex. The key lesions of otosclerosis are multifocal areas of sclerosis within the endochondral
temporal bone The temporal bone is a paired bone situated at the sides and base of the skull, lateral to the temporal lobe of the cerebral cortex. The temporal bones are overlaid by the sides of the head known as the temples where four of the cranial bone ...
. These lesions share some characteristics with Paget's Disease, but they are not thought to be otherwise related. Histopathological studies have all been done on cadaveric temporal bones, so only inferences can be made about progression of the disease histologically. It seems that the lesions go through an active "spongiotic" or hypervascular phase before developing into "sclerotic" phase lesions. There have been many genes and proteins identified that, when mutated, may lead to these lesions. Also there is mounting evidence that measles virus is present within the otosclerotic foci, implicating an infectious etiology (this has also been noted in Paget's Disease). Conductive hearing loss (CHL) in otosclerosis is caused by two main sites of involvement of the sclerotic (or scar-like) lesions. The best understood mechanism is fixation of the
stapes The ''stapes'' or stirrup is a bone in the middle ear of humans and other tetrapods which is involved in the conduction of sound vibrations to the inner ear. This bone is connected to the oval window by its annular ligament, which allows the f ...
footplate to the
oval window The oval window (or ''fenestra vestibuli'' or ''fenestra ovalis'') is a connective tissue membrane-covered opening from the middle ear to the cochlea of the inner ear. Vibrations that contact the tympanic membrane travel through the three ossicl ...
of the
cochlea The cochlea is the part of the inner ear involved in hearing. It is a spiral-shaped cavity in the bony labyrinth, in humans making 2.75 turns around its axis, the modiolus (cochlea), modiolus. A core component of the cochlea is the organ of Cort ...
. This greatly impairs movement of the stapes and therefore transmission of sound into the inner ear ("ossicular coupling"). Additionally the cochlea's round window can also become sclerotic, and in a similar way impair movement of sound pressure waves through the inner ear ("acoustic coupling"). CHL is usually concomitant with impingement of abnormal bone on the stapes footplate. This involvement of the oval window forms the basis of the name fenestral otosclerosis. The most common location of involvement of otosclerosis is the bone just anterior to the oval window at a small cleft known as the fissula ante fenestram. The fissula is a thin fold of connective tissue extending through the endochondral layer, approximately between the oval window and the cochleariform process, where the tensor tympani tendon turns laterally toward the malleus. The mechanism of sensorineural hearing loss in otosclerosis is less well understood. It may result from direct injury to the cochlea and spiral ligament from the lytic process or from release of proteolytic enzymes into the cochlea. There are certainly a few well documented instances of sclerotic lesions directly obliterating sensory structures within the cochlea and spiral ligament, which have been photographed and reported post-mortem. Other supporting data includes a consistent loss of cochlear hair cells in patients with otosclerosis; these cells being the chief sensory organs of sound reception. A suggested mechanism for this is the release of hydrolytic enzymes into the inner ear structures by the spongiotic lesions.


Diagnosis

Otosclerosis is traditionally diagnosed by characteristic clinical findings, which include progressive conductive hearing loss, a normal tympanic membrane, and no evidence of middle ear inflammation. The cochlear promontory may have a faint pink tinge reflecting the vascularity of the lesion, referred to as the Schwartz sign. Approximately 0.5% of the population will eventually be diagnosed with otosclerosis. Post-mortem studies show that as many as 10% of people may have otosclerotic lesions of their temporal bone, but apparently never had symptoms warranting a diagnosis. Caucasians are the most affected race, with the prevalence in the Black and Asian populations being much lower. In clinical practice otosclerosis is encountered about twice as frequently in females as in males, but this does not reflect the true sex ratio. When families are investigated it is found that the condition is only slightly more common in women. Usually noticeable hearing loss begins at middle-age, but can start much sooner. The hearing loss was long believed to grow worse during pregnancy, but recent research does not support this belief.


Differential testing


Audiometry

Fixation of the stapes within the oval window causes a conductive hearing loss. In
pure-tone audiometry Pure-tone audiometry is the main hearing test used to identify hearing threshold levels of an individual, enabling determination of the degree, type and configuration of a hearing loss and thus providing a basis for diagnosis and management. P ...
, this manifests as air-bone gaps on the
audiogram An audiogram is a graph that shows the audible threshold for standardized frequencies as measured by an audiometer. The Y axis represents intensity measured in decibels (dB) and the X axis represents frequency measured in hertz (Hz). The thresho ...
(i.e. a difference of more than 10 dB between the air-conduction and bone-conduction thresholds at a given test frequency). However, medial fixation of the ossicular chain impairs both the inertial and osseotympanic modes of bone conduction, increasing the bone-conduction thresholds between 500 Hz and 4 kHz, and reducing the size of air-bone gaps. As 2 kHz is the
resonant frequency Resonance is a phenomenon that occurs when an object or system is subjected to an external force or vibration whose frequency matches a resonant frequency (or resonance frequency) of the system, defined as a frequency that generates a maximu ...
of the ossicular chain, the largest increase in bone-conduction threshold (around 15 dB) occurs at this frequency – the resultant notch is called ''Carhart's notch'' and is a useful clinical marker for medial ossicular-chain fixation.
Tympanometry Tympanometry is an acoustic evaluation of the condition of the middle ear eardrum (tympanic membrane) and the conduction bones by creating variations of air pressure in the ear canal. Tympanometry is an objective test of middle-ear function. It ...
measures the peak pressure (TPP) and peak-compensated static
admittance In electrical engineering, admittance is a measure of how easily a circuit or device will allow a current to flow. It is defined as the multiplicative inverse, reciprocal of Electrical impedance, impedance, analogous to how Electrical resistanc ...
(''Y''tm) of the middle ear at the
eardrum In the anatomy of humans and various other tetrapods, the eardrum, also called the tympanic membrane or myringa, is a thin, cone-shaped membrane that separates the external ear from the middle ear. Its function is to transmit changes in pres ...
. As the stapes is ankylosed in otosclerosis, the lateral end of the ossicular chain may still be quite mobile. Therefore, otosclerosis may only slightly reduce the admittance, resulting in either a shallow tympanogram (type AS), or a normal tympanogram (type A). Otosclerosis increases the stiffness of the middle-ear system, raising its resonant frequency. This can be quantified using multi-frequency tympanometry. Thus, a high resonant-frequency pathology such as otosclerosis can be differentiated from low resonant-frequency pathologies such as ossicular discontinuity. In the absence of a pathology, a loud sound (generally greater than 70 dB above threshold) causes the
stapedius muscle The stapedius is the smallest skeletal muscle Skeletal muscle (commonly referred to as muscle) is one of the three types of vertebrate muscle tissue, the others being cardiac muscle and smooth muscle. They are part of the somatic nervous syste ...
to contract, reducing the admittance of the middle ear and softening the perceived loudness of the sound. If the mobility of the stapes is reduced due to otosclerosis, then stapedius muscle contraction does not significantly decrease the admittance. When
acoustic reflex The acoustic reflex (also known as the stapedius reflex, stapedial reflex, auditory reflex, middle-ear-muscle reflex (MEM reflex, MEMR), attenuation reflex, cochleostapedial reflex or intra-aural reflex) is an involuntary muscle contraction that ...
testing is conducted, the acoustic reflex thresholds (ART) cannot be determined when attempting to measure on the affected side. Also, a conductive pathology will attenuate the test stimuli, resulting in either elevated reflex thresholds or absent reflexes when the stimulus is presented in the affected ear and measured in the other ear.


CT imaging

Imaging is usually not pursued in those with uncomplicated conductive hearing loss and characteristic clinical findings. Those with only conductive hearing loss are often treated medically or with surgery without imaging. The diagnosis may be unclear clinically in cases of sensorineural or mixed hearing loss and may become apparent only on imaging. Therefore, imaging is often performed when the hearing loss is sensorineural or mixed. A high-resolution CT shows very subtle bone findings. However, CT is usually not needed prior to surgery. Otosclerosis on CT can be graded using the grading system suggested by Symons and Fanning. * Grade 1, solely fenestral; * Grade 2, patchy localized cochlear disease (with or without fenestral involvement) to either the basal cochlear turn (grade 2A), or the middle/apical turns (grade 2B), or both the basal turn and the middle/apical turns (grade 2C); and * Grade 3, diffuse confluent cochlear involvement (with or without fenestral involvement).


Treatment

Several approaches have been used in the treatment of otosclerosis, including medical, surgical and amplification. Technological innovations in hearing aid technology and cochlear implants are now being used to substitute or complement other interventions.


Medical

Earlier workers suggested the use of calcium fluoride; now sodium fluoride is the preferred compound. Fluoride ions inhibit the rapid progression of disease. In the otosclerotic ear, there occurs formation of
hydroxylapatite Hydroxyapatite ( IMA name: hydroxylapatite) (Hap, HAp, or HA) is a naturally occurring mineral form of calcium apatite with the formula , often written to denote that the crystal unit cell comprises two entities. It is the hydroxyl endmembe ...
crystals which lead to stapes (or other) fixation. The administration of fluoride replaces the hydroxyl radical with fluoride leading to the formation of fluorapatite crystals. Hence, the progression of disease is considerably slowed down and active disease process is arrested. This treatment cannot reverse conductive hearing loss, but may slow the progression of both the conductive and sensorineural components of the disease process. Otofluor, containing sodium fluoride, is one treatment. Recently, some success has been claimed with a second such treatment,
bisphosphonate Bisphosphonates are a class of drugs that prevent the loss of bone density, used to treat osteoporosis and similar diseases. They are the most commonly prescribed to treat osteoporosis. Evidence shows that they reduce the risk of fracture in ...
medications that inhibit bone destruction. However, these early reports are based on non-randomized case studies that do not meet standards of clinical trials. There are numerous side-effects to both pharmaceutical treatments, including occasional stomach upset, allergic itching, and increased joint pains which can lead to arthritis. In the worst case, bisphosphonates may lead to
osteonecrosis Avascular necrosis (AVN), also called osteonecrosis or bone infarction, is death of bone tissue due to interruption of the blood supply. Early on, there may be no symptoms. Gradually joint pain may develop, which may limit the person's abili ...
of the auditory canal itself. Finally, neither approach has been proven to be beneficial after the commonly preferred method of surgery has been undertaken.


Surgical

There are various methods to treat otosclerosis. However the method of choice is a procedure known as stapedectomy. Early attempts at hearing restoration via the simple freeing of the stapes from its sclerotic attachments to the oval window were met with temporary improvement in hearing, but the conductive hearing loss would almost always recur. A stapedectomy consists of removing a portion of the sclerotic stapes footplate and replacing it with a middle ear implant that is secured to the incus. This procedure restores continuity of ossicular movement and allows transmission of sound waves from the eardrum to the inner ear. A modern variant of this surgery called a stapedotomy, is performed by drilling a small hole in the stapes footplate with a micro-drill or a laser, and the insertion of a piston-like prothesis. The success rate of either surgery depends greatly on the skill and the familiarity with the procedure of the surgeon. However, comparisons have shown stapedotomy to yield results at least as good as stapedectomy, with fewer complications, and thus stapedotomy is preferred in normal circumstances. Recently, Endoscopic stapedotomy has been gaining popularity since its first description by Professor Tarabichi in 1999. The endsocope provides much better view of the stapes footplate without removal of bone to access that structure.


Amplification

Although hearing aids cannot prevent, cure or inhibit the progression of otosclerosis, they can help treat the largest symptom, hearing loss. Hearing aids can be tuned to specific frequency losses. However, due to the progressive nature of this condition, use of a hearing aid is palliative at best. Without eventual surgery, deafness is likely to result.


Society and culture


Notable cases

* German composer
Ludwig van Beethoven Ludwig van Beethoven (baptised 17 December 177026 March 1827) was a German composer and pianist. He is one of the most revered figures in the history of Western music; his works rank among the most performed of the classical music repertoire ...
was theorized to suffer from otosclerosis, although this is controversial. * Victorian journalist
Harriet Martineau Harriet Martineau (12 June 1802 – 27 June 1876) was an English social theorist.Hill, Michael R. (2002''Harriet Martineau: Theoretical and Methodological Perspectives'' Routledge. She wrote from a sociological, holism, holistic, religious and ...
gradually lost her hearing during her young life, and later medical historians have diagnosed her with probably suffering from otosclerosis as well. * Theresa Goell, pioneering American archaeologist, lost her hearing due to otosclerosis and relied on lip reading. She had a successful career excavating
Mount Nemrut Mount Nemrut or Nemrud (; ; ; Greek language, Greek: Όρος Νεμρούτ) is a mountain in southeastern Turkey, notable for the summit where a number of large statues are erected around what is assumed to be a royal tomb from the 1st century ...
in Turkey, despite the challenges of being a deaf woman in a heavily male-dominated field. *
Margaret Sullavan Margaret Brooke Sullavan (May 16, 1909 – January 1, 1960) was an American stage and film actress. She began her career onstage in 1929 with the University Players on Cape Cod, Massachusetts. In 1933, she caught the attention of film direct ...
, American stage and film actress, suffered from the congenital hearing defect otosclerosis that worsened as she aged, making her more and more hard of hearing. *
Howard Hughes Howard Robard Hughes Jr. (December 24, 1905 – April 5, 1976) was an American Aerospace engineering, aerospace engineer, business magnate, film producer, and investor. He was The World's Billionaires, one of the richest and most influential peo ...
the pioneering American aviator, engineer, industrialist, and film producer also suffered from otosclerosis. *
Frankie Valli Francesco Stephen Castelluccio (born May 3, 1934), better known by his stage name Frankie Valli, is an American singer and occasional actor, best known as the frontman (lead singer) of The Four Seasons (band), the Four Seasons. He is known for ...
, lead singer of The Four Seasons, suffered from it in the late 1960s and early 1970s, forcing him to "sing from memory" in the latter part of the 70s (surgery restored most of his hearing by 1980). *
Pittsburgh Penguins The Pittsburgh Penguins (colloquially known as the Pens) are a professional ice hockey team based in Pittsburgh. The Penguins compete in the National Hockey League (NHL) as a member of the Metropolitan Division in the Eastern Conference (NHL), E ...
forward Steve Downie suffers from otosclerosis. * The British queen
Alexandra of Denmark Alexandra of Denmark (Alexandra Caroline Marie Charlotte Louise Julia; 1 December 1844 – 20 November 1925) was List of British royal consorts, queen-consort of the United Kingdom and the British Dominions, and Empress of India, from 22 Januar ...
suffered from it, leading to her social isolation; Queen Alexandra's biographer, Georgina Battiscombe, was able to have "some understanding of Alexandra's predicament" because she too had otosclerosis. *
Adam Savage Adam Whitney Savage (born July 15, 1967) is an American special effects designer and manufacturer, fabricator, actor, educator, television personality, and producer, best known as the former co-host, with Jamie Hyneman, of the Discovery Channe ...
, co-host of ''
MythBusters ''MythBusters'' is a science entertainment television series created by Peter Rees (producer), Peter Rees and produced by Beyond International in Australia. The series premiered on the Discovery Channel on January 23, 2003. It was broadcast in ...
'', uses a hearing aid due to otosclerosis. * Sir
John Cornforth Sir John Warcup Cornforth Jr., (7 September 1917 – 8 December 2013) was an AustralianBritish chemist who won the Nobel Prize in Chemistry in 1975 for his work on the stereochemistry of enzyme- catalysed reactions, becoming the only Nobel l ...
, Australian-British Nobel Prize in Chemistry laureate * Zak Abel, English singer-songwriter and musician


References


External links


NIH/Medline
{{Hearing and balance Diseases of inner ear Otology Audiology