What is Macroglossia?
The size of a person’s tongue can differ and change as they grow older, with most of its growth happening in the first 8 years of life, and fully grown by the age of 18. Sometimes, a tongue might become bigger in a condition called macroglossia, which is when the tongue is so big, it sticks out past the teeth. This condition is not very common and usually indicates another underlying issue. In rare instances, a person can inherit this oversized tongue as a genetic trait. There are two types of macroglossia: true and relative.
True macroglossia refers to when the tongue is genuinely larger, often due to other health problems, which can be seen in certain medical tests. Relative macroglossia is when the tongue looks larger because other structures in the mouth are small or underdeveloped. For example, in Down syndrome, the tongue may appear enlarged due to poor muscle tone, and in Pierre Robin syndrome, the tongue seems larger due to a small lower jaw.
What Causes Macroglossia?
Macroglossia is when the tongue grows too large and conditions can be inherited or develop later in life that cause this to occur. In cases of true macroglossia, the tongue becomes large because of an overgrowth of muscle and glandular tissue, infections, or inflammation. This condition can be present from birth (congenital) or develop over time (acquired).
Congenital macroglossia can result from a variety of causes, such as Beckwith Wiedemann syndrome, Hunter and Hurler syndromes, Down syndrome, and Pompe disease, among others. Acquired macroglossia, on the other hand, often stems from long-term infections or inflammatory diseases, cancers, hormonal imbalances, and metabolic disorders. These include conditions like hypothyroidism, amyloidosis, acromegaly, and diabetes, as well as conditions like syphilis, tuberculosis, and benign and malignant tumors. Allergic reactions, surgery, trauma, and various infections can also lead to macroglossia. In some cases, a swollen tongue can develop after surgical procedures if certain precautions are not taken.
Macroglossia is relatively rare but can be a dangerous complication after neurosurgery, particularly surgeries performed in a sitting position. This is because the blood vessels in the neck can be compressed during the operation, or the tongue can be mechanically compressed by the tools used to keep the patient’s airways open. It may become impossible to breathe immediately or within 30 minutes of the blockage being relieved.
The most common cause of macroglossia in adults is a condition called amyloidosis, which can cause the tongue to become unusually large. In rare instances, the only symptom of amyloidosis may be an enlarged tongue. A hormonal condition called acromegaly, which results in enlarged facial features and body parts, can also cause macroglossia. In patients with acromegaly, up to half of them may experience snoring and sleep apnea, a condition that causes temporary pauses in breathing during sleep. This can complicate procedures where anesthesia is needed to put the patient to sleep.
In children, macroglossia is a common symptom seen in those with Beckwith Wiedemann syndrome. This condition leads to an enlargement in various parts of the body, including the tongue, and occurs in nearly 90% of children diagnosed with the syndrome. Hypothyroidism is another common cause of macroglossia in children, that can also result in short stature, delayed adolescence, dry skin and brittle hair. Children with Down syndrome may also have tongues that appear larger than normal due to the presence of low muscle tone.
Risk Factors and Frequency for Macroglossia
Macroglossia, or an unusually large tongue, is a condition that’s not very common and is often linked to a variety of genetic disorders. Its true occurrence rate and whether it affects males or females more is still uncertain, because it’s hard to measure due to its connection with various genetic conditions. Having macroglossia as a standalone condition, without any other complications and in an inherited form, is extremely rare. So far, we only know about roughly 50 cases like this that have been reported in medical literature.
Signs and Symptoms of Macroglossia
Macroglossia, or an abnormally large tongue, is typically diagnosed by comparing it to a normal-sized tongue. This condition can cause many problems. Infants with macroglossia might have trouble eating, resulting in poor weight gain and slow growth due to the large tongue getting in the way. In later life, this condition can lead to speech difficulties and issues with the teeth, like misalignment or protrusion.
- Feeding difficulties
- Poor weight gain
- Slow growth
- Speech difficulties
- Misaligned or protruding teeth
The tip of the tongue might even have necrosis (tissue death) and there can be ulcers throughout the tongue. If there are issues like tumors or infections (such as Ludwig’s angina), the tongue might be pushed upwards and forwards. In cases where the enlargement is generalized or towards the back of the tongue, the large tongue can obstruct airways and become a life-threatening problem. Patients with macroglossia, or those with chronic airway obstruction, may show signs of heart failure and high blood pressure in the lungs (also known as pulmonary hypertension).
Testing for Macroglossia
When it comes to undiagnosed health conditions, a thorough review of your health history and a physical examination are the first steps. One of the things your doctor might examine is your tongue. They’ll be looking for changes in its color and texture, along with checking for any unusual lumps or bumps.
If your doctor suspects a specific disease or condition, they may order additional tests. For example, if they think a thyroid problem could be the cause, they’ll order thyroid function tests and imaging of the thyroid gland. They might also ask for genetic testing, a metabolic profile, testing for mucopolysaccharides (a type of long-chain sugar molecule) in your urine, and an ultrasound of your abdomen, especially if something like Beckwith Wiedemann syndrome is suspected. This syndrome is a congenital (present at birth) disorder that can cause a variety of symptoms, like an enlarged tongue.
Your doctor will also be on the lookout for signs of tumors or cancerous growths. If suspected, they might take a small sample of the suspicious area on your tongue using a technique called fine needle aspiration. This sample is then examined closely in the lab. For larger suspicious areas, a surgical biopsy might be required.
In some cases, imaging tests might be needed. These tests are not so much to confirm if your tongue is enlarged (that can usually be determined just by examining it), but to identify other potential issues like tumors or abnormal blood vessels. Computed tomography (CT) and magnetic resonance imaging (MRI) can be really useful for this, as they provide detailed images of the soft tissues inside your body.
If a condition like amyloidosis is suspected, a biopsy of other tissues (like skin or rectum) might be needed. Amyloidosis is a rare disease that occurs when a substance called amyloid builds up in your organs. Heart tests such as an electrocardiogram, echocardiogram, a chest X-ray, and an arterial blood gas analysis might be needed if you’re showing signs of ongoing issues with your breathing. This is to rule out any heart complications.
Treatment Options for Macroglossia
Macroglossia refers to an abnormally large tongue. The first step in treating this condition is to identify and address the underlying cause. This could involve several treatment approaches including medications, surgery, radiation therapy, or orthodontic procedures.
If the swelling of the tongue persists and causes issues such as obstruction of the airway even after successful treatment, a patient may need a surgical procedure. Doctors usually prefer the least invasive treatment method, but in severe cases or if a tumor is present, more intensive interventions might be required. Such issues could cause difficulties with speech and swallowing, facial abnormalities, and psychological impact. A reduction glossectomy, a surgery that reduces the size of the tongue, is necessary in about 10% of macroglossia cases. There are more than 20 different surgical techniques. If surgery is required, the goal is generally to remove as little of the tongue as needed to maintain its functionality, particularly for benign cases.
For some specific cases, certain medications can be beneficial. If macroglossia is caused by hypothyroidism, then thyroxine might be used. If acromegaly (a hormonal disorder that develops when the pituitary gland produces too much growth hormone) is causing the condition, bromocriptine could be a potential treatment. After surgery has been performed, corticosteroids might be used to help reduce swelling and can be critical in treating acute obstructions.
Patients with acromegaly and macroglossia who do not respond to medication therapy might find relief from a partial glossectomy. If the condition is caused by certain medications, like lopinavir/ritonavir, an improvement could be seen after stopping the use of these drugs. In some cases, macroglossia might reduce in size on its own. For instance, around 40% of children with Beckwith-Wiedemann Syndrome (BWS), a growth disorder marked by a larger than normal tongue among other symptoms, have seen a reduction in the size of their tongue following surgical intervention.
What else can Macroglossia be?
When a doctor tries to figure out if a patient has macroglossia, which is an enlarged tongue, there are other situations they also have to consider, because they could make the tongue look bigger, even though it isn’t. This is known as pseudomacroglossia. These situations might include:
- A low position of the roof of the mouth (low palate)
- Large tonsils
- Tumors in the mouth
- Irregularities with the upper and lower jawbones (abnormalities of mandible and maxilla arches)
- Lack of muscle tone (hypotonia)
Actual enlargement of the tongue (true macroglossia) can be caused by things like tumors and blood vessel abnormalities. These might need an imaging test to understand them better. It’s also possible for certain hormonal irregularities and birth conditions to cause an enlarged tongue, and these should be considered based on the other symptoms present and test results. Certain diseases (like amyloidosis) where substances build up in organs and tissues could also make the tongue enlarge, and would need to be diagnosed using other clinical signs, lab tests, or tissue examination. Temporary causes of tongue swelling like injuries, allergies, and infections are also possibilities that must be considered.
What to expect with Macroglossia
In general, most people have a straightforward recovery. But if complications arise, doctors may need to take additional measures to enhance the likelihood of a successful recovery. How well a person does in the long-run often relies on how severe the condition is, what caused it in the first place, and how effective the treatment is.
Possible Complications When Diagnosed with Macroglossia
Having an abnormally large tongue, a condition called macroglossia, can result in a number of problems. The main problem is that it might block your airway when you’re lying on your back. This is because the base of the enlarged tongue can then easily get in the way of your throat, potentially leading to a blockage of the airway. This blockage can cause a lack of oxygen to the brain and can lead to a sudden heart stoppage.
Other issues include trouble in chewing which might lead to severe pain in the jaw joint. Moreover, the tongue may be more prone to injury and can often end up dry or may lead to repeated upper respiratory tract infections mainly because it sticks out from the mouth.
Note that there are a number of other symptoms as well:
- Drooling
- Swallowing difficulties
- Airway obstruction
- Jaw abnormalities
- Abnormal spacing between teeth
- Failure to grow well or thrive
- Problems in speaking clearly because of the size and position of the tongue
An important point to note is that having macroglossia makes it harder for doctors to insert a tube into your airway, a procedure known as intubation. They should be extra careful to avoid causing injury because of this difficulty.
Preventing Macroglossia
Patients should be informed about the risks and potential severe outcomes associated with macroglossia, which is a condition where the tongue is abnormally large. It’s particularly important for children with this condition to have regular check-ups. During these visits, the doctor will look for any speech issues and check for dental malocclusion – a condition where the upper and lower teeth don’t fit together properly when biting or chewing.
