Congenital anosmia

Last updated
Congenital Anosmia
Other namesIsolated Congenital Anosmia
1543,Vesalius'OlfactoryBulbs.jpg
Olfactory bulbs and olfactory tracts outlined in red. These structures, which are critical for the sense of smell, are missing or underdeveloped in individuals with congenital anosmia.
Specialty Otorhinolaryngology
Symptoms Complete inability to perceive smell from birth [1]
Complications Safety risks (e.g., inability to detect smoke or gas leaks), potential nutritional issues [2]
Usual onsetBirth [1]
DurationLifelong [1]
TypesIsolated, Syndromic (e.g., Kallmann syndrome) [3]
CausesGenetic mutations, developmental defects of the olfactory bulbs and tracts [3]
Risk factors Genetic predisposition [3]
Diagnostic method Medical history, physical examination, smell tests, brain imaging (MRI/CT), nasal endoscopy, olfactory nerve testing [1] [4]
Differential diagnosis Acquired anosmia, other olfactory disorders [5]
PreventionNone [1]
TreatmentNo cure; management includes safety precautions and coping strategies [2] [6]
Medication None [1]
Prognosis Lifelong condition with management of associated risks [1]
FrequencyApproximately 1 in 10,000 individuals [4]

Congenital anosmia is a rare condition characterized by the complete inability to perceive smell from birth. It affects approximately 1 in 10,000 individuals and is often diagnosed later in life due to its subtle presentation and lack of associated symptoms. [7] [8]

Contents

Details

The cause of congenital anosmia is not fully understood, but it is often linked to the underdevelopment or absence of the olfactory bulbs and tracts. [9] Diagnosis typically involves clinical evaluation, smell tests, and imaging studies to identify any structural abnormalities in the olfactory system. [10] This condition can occur in isolation or as part of a syndrome, such as Kallmann syndrome or CHARGE syndrome. [11]

There is no known cure for congenital anosmia. Management focuses on safety precautions to mitigate risks associated with the inability to smell, such as not detecting smoke or gas leaks. [10] Despite the challenges, individuals with congenital anosmia can lead normal lives with appropriate support and counseling. [8]

Diagnosis

There is no single test to definitively diagnose congenital anosmia. Instead, the diagnosis is made through a combination of clinical evaluations, smell tests, imaging studies, and the exclusion of other potential causes of smell loss. [1] [12] This comprehensive approach ensures that other conditions that might interfere with the sense of smell are ruled out before confirming a diagnosis of congenital anosmia. [13]

The diagnostic process typically includes the following steps:

Many individuals with congenital anosmia are unaware of their condition until later in childhood or adolescence when they begin to realize they cannot smell things that others can. Therefore, diagnosis may not occur until well after birth, despite the condition being present from birth. [17]

A multidisciplinary approach involving ENT specialists, neurologists, and geneticists may be necessary for a comprehensive diagnosis, especially in complex cases or when congenital anosmia is suspected to be part of a broader syndrome. [19] [13]

Challenges of living with congenital anosmia

Safety concerns

The inability to detect odors poses safety risks such as the inability to smell smoke or gas leaks, [8] difficulty identifying spoiled food (leading to food poisoning), [5] [4] and challenges in detecting harmful chemicals or fumes. [20]

Social and psychological impact

Memory and emotional impact

The sense of smell is closely linked to memory and emotions because the olfactory system is connected to the brain's limbic system, which is involved in emotional processing and memory formation. This connection means that specific scents can trigger vivid memories and strong emotional responses. For example, the smell of a particular perfume might remind someone of a loved one, or the scent of freshly baked cookies could evoke childhood memories. Without the sense of smell, individuals with congenital anosmia may miss out on these powerful sensory experiences that enhance and enrich one's emotional lives and memories. [24] [25] [26] [27]

Treatment

Currently, there is no definitive treatment for congenital anosmia, as the condition involves the absence or underdevelopment of the olfactory bulbs and tracts, which are critical for the sense of smell. Management primarily focuses on safety precautions and coping strategies to mitigate the risks associated with the inability to smell. [2] [4] [5]

Safety precautions

According to medical professionals and patient support organizations such as Fifth Sense, individuals with congenital anosmia are advised to take several safety measures to protect themselves from potential hazards. [28] [29] These measures include:

Coping strategies

While there is no cure for congenital anosmia, individuals can use psychological counseling and support groups to help individuals cope with the emotional and practical challenges of living without a sense of smell. [4]

Research and future directions

Research into potential treatments for congenital anosmia is ongoing. Gene therapy has shown promise in animal models, where scientists have successfully restored the sense of smell in mice with congenital anosmia. [6] Additionally, identifying the genetic causes of congenital anosmia could lead to the development of targeted gene therapies for humans in the future. [31]

Clinical trials and research studies are being conducted to explore new treatments and improve the understanding of congenital anosmia. Individuals with congenital anosmia may consider participating in these studies to contribute to scientific advancements and potentially benefit from emerging therapies. [32]

Epidemiology

Congenital anosmia is a rare condition, with limited large-scale epidemiological studies available. The exact prevalence is difficult to determine due to underreporting and challenges in early diagnosis. [19] However, it is estimated to affect approximately 1 in 10,000 individuals. [4] [7]

Research institutes working on congenital anosmia

Located in Philadelphia, USA, the Monell Chemical Senses Center is a research institute focused on the senses of smell and taste. The lab of Joel Mainland has been studying genetic inheritance patterns to identify genes that cause congenital anosmia. This research is part of a broader effort to understand the mechanisms of smell and develop effective treatments for smell disorders. [12]

The NYU Langone Health Anosmia Center specializes in diagnosing and treating anosmia, including congenital anosmia. The center's team of otolaryngologists conducts evaluations and research to improve understanding and management of smell disorders. [33]

Located in Gainesville, FL, the University of Florida Center for Smell and Taste coordinates and promotes research on taste and smell. Researchers are exploring gene therapy approaches to restore the sense of smell in individuals with congenital anosmia. [34]

Fifth Sense is a UK-based charity dedicated to supporting people with smell and taste disorders. They collaborate with researchers and institutions to advance the understanding of congenital anosmia. They provide resources, support, and advocacy for individuals affected by the condition. [1]

Under the direction of Professor Thomas Hummel, the University of Dresden Smell and Taste Center in Germany conducts fundamental and clinical research on the diagnosis, consequences, and treatments of anosmia, including congenital anosmia. [35]

Smell and Taste Association of North America is a non-profit organization dedicated to advancing research, education, and advocacy for individuals affected by smell and taste disorders, including congenital anosmia. STANA connects researchers, clinicians, and patients. The organization promotes research initiatives and raises awareness about chemosensory disorders. [36] STANA collaborates with various research institutions and is involved in organizing conferences that bring together scientists, clinicians, and individuals with smell and taste disorders to further research and understanding of conditions like congenital anosmia. [37]

Notable people with congenital anosmia

See also

Related Research Articles

<span class="mw-page-title-main">Anosmia</span> Inability to smell

Anosmia, also known as smell blindness, is the loss of the ability to detect one or more smells. Anosmia may be temporary or permanent. It differs from hyposmia, which is a decreased sensitivity to some or all smells.

Dysgeusia, also known as parageusia, is a distortion of the sense of taste. Dysgeusia is also often associated with ageusia, which is the complete lack of taste, and hypogeusia, which is a decrease in taste sensitivity. An alteration in taste or smell may be a secondary process in various disease states, or it may be the primary symptom. The distortion in the sense of taste is the only symptom, and diagnosis is usually complicated since the sense of taste is tied together with other sensory systems. Common causes of dysgeusia include chemotherapy, asthma treatment with albuterol, and zinc deficiency. Liver disease, hypothyroidism, and rarely, certain types of seizures can also lead to dysgeusia. Different drugs can also be responsible for altering taste and resulting in dysgeusia. Due to the variety of causes of dysgeusia, there are many possible treatments that are effective in alleviating or terminating the symptoms. These include artificial saliva, pilocarpine, zinc supplementation, alterations in drug therapy, and alpha lipoic acid.

<span class="mw-page-title-main">Olfactory system</span> Sensory system used for smelling

The olfactory system or sense of smell is the sensory system used for smelling (olfaction). Olfaction is one of the special senses, that have directly associated specific organs. Most mammals and reptiles have a main olfactory system and an accessory olfactory system. The main olfactory system detects airborne substances, while the accessory system senses fluid-phase stimuli.

Kallmann syndrome (KS) is a genetic disorder that prevents a person from starting or fully completing puberty. Kallmann syndrome is a form of a group of conditions termed hypogonadotropic hypogonadism. To distinguish it from other forms of hypogonadotropic hypogonadism, Kallmann syndrome has the additional symptom of a total lack of sense of smell (anosmia) or a reduced sense of smell. If left untreated, people will have poorly defined secondary sexual characteristics, show signs of hypogonadism, almost invariably are infertile and are at increased risk of developing osteoporosis. A range of other physical symptoms affecting the face, hands and skeletal system can also occur.

Ageusia is the loss of taste functions of the tongue, particularly the inability to detect sweetness, sourness, bitterness, saltiness, and umami. It is sometimes confused with anosmia – a loss of the sense of smell. True ageusia is relatively rare compared to hypogeusia – a partial loss of taste – and dysgeusia – a distortion or alteration of taste.

Parosmia is a dysfunctional smell detection characterized by the inability of the brain to correctly identify an odor's "natural" smell. Instead, the natural odor is usually transformed into an unpleasant aroma, typically a "burned", "rotting", "fecal", or "chemical" smell. There can also be rare instances of a pleasant odor called euosmia. The condition was rare and little-researched until it became relatively more widespread since 2020 as a side effect of COVID-19.

Phantosmia, also called an olfactory hallucination or a phantom odor, is smelling an odor that is not actually there. This is intrinsically suspicious as the formal evaluation and detection of relatively low levels of odour particles is itself a very tricky task in air epistemology. It can occur in one nostril or both. Unpleasant phantosmia, cacosmia, is more common and is often described as smelling something that is burned, foul, spoiled, or rotten. Experiencing occasional phantom smells is normal and usually goes away on its own in time. When hallucinations of this type do not seem to go away or when they keep coming back, it can be very upsetting and can disrupt an individual's quality of life.

Hyposmia, or microsmia, is a reduced ability to smell and to detect odors. A related condition is anosmia, in which no odors can be detected. Some of the causes of olfaction problems are allergies, nasal polyps, viral infections and head trauma. In 2012 an estimated 9.8 million people aged 40 and older in the United States had hyposmia and an additional 3.4 million had anosmia/severe hyposmia.

<span class="mw-page-title-main">Monell Chemical Senses Center</span>


The Monell Chemical Senses Center is an independent, non-profit scientific research institute located at the University City Science Center campus in Philadelphia. Founded in 1968, it is dedicated to interdisciplinary basic research on the senses of taste and smell. The center's mission is to improve health and well-being by advancing the scientific understanding of taste, smell, and related senses. Monell's research focuses on various aspects of chemosensory science, including how chemical senses affect human health, behavior, and the environment. The center employs a collaborative and interdisciplinary approach, with scientists from diverse fields such as sensory psychology, biophysics, chemistry, behavioral neuroscience, environmental science, and genetics working together on research projects.

Dysosmia is a disorder described as any qualitative alteration or distortion of the perception of smell. Qualitative alterations differ from quantitative alterations, which include anosmia and hyposmia. Dysosmia can be classified as either parosmia or phantosmia. Parosmia is a distortion in the perception of an odorant. Odorants smell different from what one remembers. Phantosmia is the perception of an odor when no odorant is present. The cause of dysosmia still remains a theory. It is typically considered a neurological disorder and clinical associations with the disorder have been made. Most cases are described as idiopathic and the main antecedents related to parosmia are URTIs, head trauma, and nasal and paranasal sinus disease. Dysosmia tends to go away on its own but there are options for treatment for patients that want immediate relief.

<span class="mw-page-title-main">Sense of smell</span> Sense that detects smells

The sense of smell, or olfaction, is the special sense through which smells are perceived. The sense of smell has many functions, including detecting desirable foods, hazards, and pheromones, and plays a role in taste.

Many types of sense loss occur due to a dysfunctional sensation process, whether it be ineffective receptors, nerve damage, or cerebral impairment. Unlike agnosia, these impairments are due to damages prior to the perception process.

Hypogonadotropic hypogonadism (HH), is due to problems with either the hypothalamus or pituitary gland affecting the hypothalamic-pituitary-gonadal axis. Hypothalamic disorders result from a deficiency in the release of gonadotropic releasing hormone (GnRH), while pituitary gland disorders are due to a deficiency in the release of gonadotropins from the anterior pituitary. GnRH is the central regulator in reproductive function and sexual development via the HPG axis. GnRH is released by GnRH neurons, which are hypothalamic neuroendocrine cells, into the hypophyseal portal system acting on gonadotrophs in the anterior pituitary. The release of gonadotropins, LH and FSH, act on the gonads for the development and maintenance of proper adult reproductive physiology. LH acts on Leydig cells in the male testes and theca cells in the female. FSH acts on Sertoli cells in the male and follicular cells in the female. Combined this causes the secretion of gonadal sex steroids and the initiation of folliculogenesis and spermatogenesis. The production of sex steroids forms a negative feedback loop acting on both the anterior pituitary and hypothalamus causing a pulsatile secretion of GnRH. GnRH neurons lack sex steroid receptors and mediators such as kisspeptin stimulate GnRH neurons for pulsatile secretion of GnRH.

The University of Pennsylvania Smell Identification Test (UPSIT) is a test that is commercially available for smell identification to test the function of an individual's olfactory system.

<span class="mw-page-title-main">Anosmia Awareness Day</span> Day to spread awareness about individuals who lose sense of smell

Anosmia Awareness Day is a day to spread awareness about anosmia (an-OHZ-me-uh), the loss of the sense of smell. It takes place each year on February 27.

<span class="mw-page-title-main">Olfactory language</span> Language associated with the sense of smell

Olfactory language refers to language associated with the sense of smell. It involves the naming and categorisation of odours by humans according to each odour's perceived source or attributes. The study of olfactory language is part of the field of linguistics and is distinct from the study of semiochemical communication, which involves communication between organisms using chemical substances detected through olfaction.

<span class="mw-page-title-main">Impact of the COVID-19 pandemic on neurological, psychological and other mental health outcomes</span>

There is increasing evidence suggesting that COVID-19 causes both acute and chronic neurologicalor psychological symptoms. Caregivers of COVID-19 patients also show a higher than average prevalence of mental health concerns. These symptoms result from multiple different factors.

Smell training or olfactory training is the act of regularly sniffing or exposing oneself to robust aromas with the intention of regaining a sense of smell. The stimulating smells used are often selected from major smell categories, such as aromatic, flowery, fruity, and resinous. Using strong scents, the patient is asked to sniff each different smell for a minimum of 20 seconds, no less than two times per day, for three to six months or more. It is used as a rehabilitative therapy to help people who have anosmia or post-viral olfactory dysfunction, a symptom of COVID-19. It was considered a promising experimental treatment in a 2017 meta-analysis.

<span class="mw-page-title-main">Wolfram-like syndrome</span> Medical condition

Wolfram-like syndrome is a rare autosomal dominant genetic disorder that shares some of the features shown by those affected with the autosomal recessive Wolfram syndrome. It is a type of WFS1-related disorder.

<span class="mw-page-title-main">Olfactic communication</span> Social interaction through smell

Olfactic communication is a channel of nonverbal communication referring to the various ways people and animals communicate and engage in social interaction through their sense of smell. Our human olfactory sense is one of the most phylogenetically primitive and emotionally intimate of the five senses; the sensation of smell is thought to be the most matured and developed human sense.

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