Abstract
Amyloidosis is a heterogeneous group of disorders caused by the extracellular deposition of a fibrillar protein called amyloid. Amyloid involvement of the tongue is almost universally secondary to systemic disease. The clinical manifestations result from the progressive extracellular deposition of amyloid within the suprahyoid muscles. In the late stages, the progressive enlargement of the tongue causes hypo- and oropharyngeal blockage, with obstruction of the upper airways. Conservative excision is a satisfactory treatment for local amyloid masses; the role of surgery in systemic forms is controversial. The authors present a case of systemic primary amyloidosis of the tongue treated surgically by a partial glossectomy via a pull-through approach and discuss the indications and rationale for surgical intervention.
Amyloidosis is a heterogeneous group of disorders caused by the extracellular deposition of a fibrillar protein called amyloid. Amyloidosis can be local or systemic. Systemic amyloidosis can be divided in primary and secondary forms. Amyloid involvement of the tongue is almost universally secondary to systemic disease. Clinical manifestations result from the progressive extracellular deposition of amyloid within the suprahyoid muscles. In most cases, the main clinical sign is macroglossia. In these patients, the tongue loses its elasticity and becomes stiff, interfering with speech, chewing, swallowing, and the ability to close the mouth. In late stages, the progressive enlargement of the tongue causes hypo- and oropharyngeal blockage, with obstruction of the upper airways.
Conservative excision is a satisfactory treatment for local amyloid masses; the role of surgery in systemic forms is controversial. The only flow chart published can help to select which patients should undergo major surgery, but it does not discuss the surgical management.
The authors present a case of systemic primary amyloidosis of the tongue treated successfully with aggressive debulking, and discuss the indications and propose a rationale for surgical intervention.
Case report
A 64-year-old male was referred to the authors’ department complaining of acute tongue enlargement with pain, dysphagia and speech impairment after teeth extraction 5 months earlier. The swelling had been stable since its appearance. His medical history included hypothyroidism with hormone replacement.
The extraoral physical examination demonstrated symmetrical induration of the suprahyoid muscles, while the tongue margins protruded buccally causing bulging of the cheeks. Intraorally, the tongue appeared stiff and filled the oral cavity completely, making it impossible to visualize the hard palate ( Fig. 1 ). On the left side, the mucosa contained painful ulcerations caused by friction again the teeth.
Magnetic resonance imaging (MRI) confirmed symmetrical hypertrophy of the suprahyoid muscles, macroglossia, and severe narrowing of the oropharyngeal lumen. A biopsy of the tongue confirmed the diagnosis of amyloidosis and the patient was sent to the department of rheumatology for complete screening. Although multiple rectal biopsies confirmed the diagnosis of systemic amyloidosis, no disease causing deposition of amyloid, such as myelom, was detected; the kidneys, heart and liver showed normal function. Polysomnography showed an apnoea/hypopnoea index (AHI) of 90.
The patient underwent surgery. After fibreoptic-assisted nasal intubation, a skin-lined tracheostomy was performed. A keyhole partial glossectomy was performed through a pull-through approach ( Fig. 2 ). The specimen measured 15 cm × 6 cm × 5 cm. The tongue halves were sutured with interrupted 1 Vicryl ® stitches with a half-circle cutting needle ( Fig. 3 ). Histopathological examination confirmed the diagnosis of amyloidosis.
