Diagnosed with Congenital Anosmia
Question:
I haven’t been able to smell my entire life (I put my birthday as the onset date). A doctor I went to diagnosed it as “congenital anosmia” but couldn’t do anything more for me. He prescribed an oral corticosteroid plan but I had no change in my ability to smell, so he said there’s nothing else he can do. I’m hoping there are more resources out there. I put severe migraines as a symptom because as a young child I used to get terrible migraines so bad I would randomly fall over. I got tests done though, and there was nothing out of the ordinary, and they no longer occur, so I’m not sure if that’s relevant, but I wanted to put it regardless. I’ve tried taste testing because I know that smell greatly affects taste. When I did a blind taste test, I had absolutely no idea what I was eating. However, I have favorite foods, and there are things I don’t like so I know I have a sense of taste, but I just can’t recognize any specific flavors.
I’m not from New York, I’m from Pennsylvania, but I’m just hoping for some answers or some other resources or some clinical trial somewhere, or basically anything. Nobody else I’ve seen has been able to help.
Answer:
First of all, thank you for your question. As you obviously realize, the loss of smell can cause many problems. We use the sense of smell to detect danger—varying from a gas leak to rotting food. The loss of smell interferes with our enjoyment of food and our daily activities. While about 1/5 of cases of loss of smell have an unknown cause, most can be related to a viral infection, head trauma or infection. A small group is born without a sense of smell. This is called congenital anosmia.
The most common syndrome causing congenital anosmia
While this can be due to a mutation on chromosome 18, the most common syndrome causing congenital anosmia is Kallmann’s Syndrome. Kallmann’s Syndrome’s two most common findings are the congenital absence of smell and delayed puberty. While we are still not able to find a way to help with the lack of the sense of smell, once diagnosed, hormonal therapy will be successful in treating the delay or absence of sexual maturation.
One can usually differentiate congenital anosmia from the loss of smell that may have occurred in infancy by an MRI of the olfactory bulb. The olfactory bulb is an area in the brain, just above the sinuses, where the smell nerves are located. The olfactory bulb may be absent in people born without the sense of smell.
Promising therapies for congenital anosmia
While we have therapies that have been shown to help for acquired anosmia, so far we do not have a good therapy for its congenital absence. Work, though, is being done. A study at the University of Michigan a few years back showed good results in treating mice with congenital anosmia.
One of the nations leading centers for the study of the sense of smell is at the University of Pennsylvania Smell and Taste Center. While we’d be happy to see you at the NY Sinus Center for this, you might start by going there for an evaluation and to see whether you may be a candidate for one of their studies.
I hope this helps clear things up.
Robert Pincus MD
Co-Director NY Sinus Center
NY Smell and Taste Center
Frequently Asked Questions
Congenital anosmia is a condition where a person is born without the sense of smell. It can be caused by genetic factors or syndromes such as Kallmann's Syndrome, and is characterized by the absence or underdevelopment of the olfactory bulb in the brain. This condition is different from smell loss acquired later in life due to illness or injury.
Congenital anosmia can be diagnosed through clinical evaluations and imaging studies such as an MRI of the olfactory bulb. The olfactory bulb may be absent or underdeveloped in individuals with congenital anosmia, which helps differentiate it from smell loss acquired after birth.
Currently, there is no established treatment to restore the sense of smell in individuals with congenital anosmia. While hormonal therapies may be provided if related syndromes like Kallmann's Syndrome are diagnosed, no effective therapies for smell restoration exist yet, though research is ongoing.
Kallmann's Syndrome is a genetic disorder characterized mainly by congenital absence of smell (anosmia) and delayed puberty due to hormonal deficiencies. It is one of the most common syndromes causing congenital anosmia, and patients may benefit from hormonal therapy to address delayed sexual maturation.
Yes, since smell significantly influences the perception of flavor, individuals with congenital anosmia often have difficulty recognizing specific tastes. Although they may have preferences and dislikes, their taste experiences are generally less distinct because of their lack of smell.
Yes, centers like the University of Pennsylvania Smell and Taste Center are leading in studying smell disorders, including congenital anosmia. Patients may consider seeking evaluation there to explore eligibility for clinical trials or experimental therapies under development.
Most cases of smell loss are related to viral infections, head trauma, or sinonasal infections. Approximately 20% of smell loss cases have unknown causes. These acquired causes differ from congenital anosmia, where the sense of smell is absent from birth.
