What Is Macroglossia

Macroglossia is the medical term for a large tongue/enlarged tongue.¹ It is one of the earliest known anatomical anomalies or conditions where the tongue is typically larger than the size of the mouth.¹ It may be present since birth or may occur later in life due to secondary conditions such as cancers, infections, or hormonal disorders.² Its overall occurrence within the general population is rare but it is commonly known to affect children more than adults.² Although commonly not life-threatening, in some severe cases, complications such as difficulty in breathing may occur.² Treatment in most cases is majorly conservative, with few individuals requiring surgery.²

Overview

For most of us, the size of our tongue changes throughout our life, with the greatest increase occurring in the first eight years of life due to normal growth, which is completed at, around 18 years of life. Macroglossia is a medical condition where a patient’s tongue bulges out or extends beyond the lower jaw or teeth in the lower jaw.²

It is a rare anomaly which, depending on the underlying condition, may be present since birth or acquired later in life.^3,4 The exact occurrence is unknown, but, it has been reported more frequently in infants and children than in adults.^3,5 Furthermore, the prevalence of its congenital variant has been noted twice more commonly in people assigned female at birth as compared to their counterparts, and twice more commonly in individuals with African American ancestry compared to those with European ancestry.⁵ Macroglossia is categorised based on whether there is a real increase in the size of the tongue; these categories are either true or relative macroglossia.^2,3

Signs and symptoms of macroglossia are an increase in the size of the tongue; however, the overall appearance and texture of the tongue may vary based on what causes it.⁶ Diagnosis commonly involves clinically having a look and feel of the tongue, followed by comparisons in subsequent visits or with previous records.^1,2 Additional tests, such as biopsies, imaging, blood tests etc. may also be needed to diagnose its underlying cause.^2,7 Various treatment options exist for managing macroglossia such as medications, speech therapy, orthodontic dental treatment, reduction glossectomy (tongue reduction surgery),  radiation or treatment of the underlying cause.² In some cases it may also regress all by itself.^2,8

Causes of macroglossia

There are multiple as well as multifactorial causes of macroglossia.² They are typically divided into two common types:

True macroglossia

In true macroglossia, there is an actual increase in the size of the tongue due to tissue growth which may be the result of lingual muscular hypertrophy (increase in the size of the tongue muscles) or an increase in size/overgrowth of other tissues such as blood vessels/lymphatic vessels in vascular malformations.² Furthermore, other mechanisms such as in amyloidosis, abnormal protein deposition may also cause an increase in size.²

An increase in the size of the tongue may be isolated or part of a complex of an underlying condition such as Beckwith-Wiedemann Syndrome.³

True macroglossia can be further classified into:

1. Congenital Macroglossia: This is typically present since birth and may often be associated with an underlying genetic disorder or genetic syndrome.^3,4 Congenital causes are:³
   • Lymphatic malformation
   • Beckwith-Wiedemann syndrome
   • Infantile haemangioma
   • Vascular malformation
   • Idiopathic muscular hypertrophy and hemihypertrophy
   • Mucopolysaccharidoses (Hunter syndrome and Hurler syndrome)
   • Neurofibromatosis type 1
   • Becker muscular dystrophy and Duchenne muscular dystrophy
   • Multiple endocrine neoplasia type 2B
2. Acquired Macroglossia: Typically caused by chronic inflammatory, metabolic, hormonal disorders/diseases, or due to cancers.³ Some causes of acquired macroglossia include:³
   • Systemic amyloidosis and amyloidosis associated with multiple myeloma⁷
   • Hypothyroidism
   • Acromegaly
   • Diabetes Mellitus
   • Infections such as tuberculosis, syphilis
   • Glossitis
   • Trauma and surgical procedures
   • Radiation therapy
   • Allergic reactions
   • Lymphoma

Relative macroglossia

This is also called Pseudo-macroglossia (pseudo–false).³ Refers to conditions when there is no actual increase in the size of the tongue, rather it only appears to be bigger compared to other structures in the oral cavity (mouth) e.g. Pierre Robin Syndrome in which the small jaws may give the false feeling of abnormal enlargement of the tongue.³ Some other causes include Down Syndrome, tonsillar hypertrophy, Ludwig’s Angina, tumours or cancers that push the tongue forward, salivary gland enlargement, and small volume of the mouth caused by a low roof of the mouth.^2,3

Signs and symptoms of macroglossia

It is itself a sign and a symptom and is as explored above already, sometimes indicative of a larger complex of underlying disease/condition.

But its clinical look and feel vary based on its underlying cause:⁴

• The most common presentation will be protrusion of the tongue beyond the lower jaw/teeth in the lower jaw^1,4,6
• Patients will often be able to touch the tip of the nose and chin with their tongue^3,4
• In Beckwith-Weidmann syndrome, hypothyroidism and acromegaly there is an overall increase in size with surface of the tongue appearing smooth^3,4,6
• Amyloidosis, multiple endocrine neoplasia type 2B and neurofibromatosis show general enlargement with multiple nodules on the surface^3,4
• Lymph-related enlargement commonly appears as enlargement of a focused area with a pebble-like surface appearance with multiple fluid-filled vesicle-like blebs (bubbles)^3,4
• Tumours or proliferative haemangioma cause enlargement of a specific area which may then become more widespread^3,4
• Hemihypertrophy is a term used to describe the enlargement of one side of the tongue^3,4

Secondary signs and symptoms may also be noted due to macroglossia:

• Noisy, high-pitched breathing (stridor)
• Drooling
• Snoring or low-pitched breathing (stertor)
• Difficulty speaking
• Difficulty breathing, speaking, eating or drinking (dysphagia)^2,4

The list above is not exhaustive since different local and systemic signs and symptoms may also be noted depending on the underlying cause.

Diagnosis

Currently, there exists no standardised size of the tongue, hence a diagnosis of either true or relative macroglossia is established on the clinical judgement through in-person or clinical evaluation of the patient.^1,2,4 An initial diagnosis may be established at first, but it might be necessary to compare the size and position of the tongue at follow-up visits as well to establish a more solid diagnosis.⁴ A local evaluation may often be accompanied by a general body check-up to identify the signs and symptoms of any syndromes/underlying conditions.²

Furthermore, the above-mentioned signs and symptoms, including secondary or resultant signs and symptoms, may also be a helpful indication to establish the diagnosis of macroglossia.

In addition to clinical evaluations, investigations such as blood tests, imaging scans (e.g., MRIs or Ultrasonographic scans), testing for genetic involvement, urine analysis, or even biopsy (removing a portion of tissue) and histopathological (looking at the tissue with special colouring under the microscope) examinations etc. might be needed to diagnose specific underlying conditions or to rule them out in a differential diagnosis.²

Management and treatment for macroglossia

Management and treatment of macroglossia majorly involve diagnosing and treating the underlying cause.² Following this based on severity, treatment options for specifically managing macroglossia are:²

• Medications such as corticosteroids, thyroxine etc.
• Orthodontic treatment
• Reduction glossectomy (tongue reduction surgery indicated in 10% of patients with mostly severe macroglossia)
• Radiation therapy
• Speech therapy^2,3,4

For most individuals, especially with mild cases, conservative approaches are commonly preferred.² In certain cases, dependent highly upon individual factors and the underlying cause, spontaneous regression of macroglossia has also been noted.⁸

FAQs

Can macroglossia be prevented?

Macroglossia is more commonly caused by inherited conditions and syndromes which cannot be prevented.² However infectious or allergic causes may be prevented by taking appropriate precautions.²

How common is macroglossia?

Although its exact occurrence is unknown, macroglossia is rare within the general population.^2,4

Who is at risk of macroglossia?

Typically, macroglossia has been reported more frequently in infants and children than in adults.^3,5 Furthermore, its congenital variant has been noted twice more commonly in assigned females at birth compared to their counterparts, and twice more commonly in individuals with African American ancestry as compared to those with European ancestry.⁵

What can I expect if I have macroglossia?

Patients with macroglossia may typically experience noisy high-pitched breathing or difficulty breathing, drooling, snoring or low-pitched breathing and difficulty speaking, eating or drinking.^1,2

When should I see a doctor?

If you suspect macroglossia, especially in children it is best to book an appointment with your Dentist or GP to avoid rare yet possible complications such as difficulty in breathing. In most cases, urgent medical attention may not be needed and booking an appointment at the earliest is advisable.^2,4

Summary

​​Macroglossia is the medical term for a large tongue or enlarged tongue.¹ It is a rare anomaly which, depending on the underlying condition, may be present since birth or acquired later in life.^3,4 Typically, macroglossia is seen more frequently in infants and children than in adults; its congenital variant has been noted twice more commonly in assigned females at birth compared to their counterparts, and twice more commonly in individuals with African American ancestry as compared to European ancestry.^3,5 The most common sign/symptom of macroglossia is an increase in the size of the tongue beyond the lower jaw or lower teeth with overall appearance and texture varying based on its cause. Diagnosis commonly involves clinically having a look and feel of the tongue and follow-up appointments and investigation are commonly required.^1,2 Some treatment options are medications, orthodontic dental treatment, reduction glossectomy (tongue reduction surgery), radiation or treating the underlying cause.²