Incidental finding during endoscopy in a patient with rheumatoid arthritis and anaemia. What’s the diagnosis? pic.twitter.com/OrJBc2mzyv— Keith Siau (@drkeithsiau) April 29, 2023
Macroglossia is a medical condition characterized by an enlarged tongue that protrudes from the mouth and may cause difficulty speaking, eating, and breathing. Here is an overview of the etiology, diagnosis, and management of macroglossia:
Etiology: Macroglossia can be caused by a variety of factors, including congenital disorders, acquired conditions, and systemic diseases. Congenital macroglossia may occur as a result of genetic abnormalities or developmental disorders, such as Down syndrome, Beckwith-Wiedemann syndrome, or neurofibromatosis type 1. Acquired macroglossia may result from trauma, infections, or neoplastic growths. Systemic diseases, such as amyloidosis, hypothyroidism, and acromegaly, can also cause macroglossia.
Diagnosis: The diagnosis of macroglossia is typically made based on physical examination and medical history. Imaging studies, such as magnetic resonance imaging (MRI) or computed tomography (CT) scans, may be used to assess the size and structure of the tongue and surrounding tissues. Blood tests and genetic testing may also be ordered to help identify underlying systemic conditions or genetic abnormalities.
Management: The management of macroglossia depends on the underlying cause and the severity of symptoms. In cases of congenital macroglossia, early intervention and surgical correction may be necessary to prevent complications and improve speech and feeding. Acquired macroglossia may require treatment of the underlying condition, such as antibiotics for infections or removal of neoplastic growths. For patients with systemic diseases causing macroglossia, treatment may involve medications or surgery to manage the underlying condition.
In some cases, speech therapy and/or swallowing therapy may be beneficial to help patients learn strategies to manage their symptoms and improve communication and feeding. In severe cases, a tracheostomy or intubation may be necessary to help with breathing. It is important for patients with macroglossia to receive ongoing monitoring and care from a multidisciplinary team, including a speech pathologist, dentist, and other specialists, to manage their symptoms and improve their quality of life.