EpistemisMacroglossia with dental imprints due to amyloidosis
Specialty: Hematology.
Why it occurs
- Systemic light chain amyloidosis / AL Amyloidosis (diffuse and progressive infiltration of the glossus muscle by insoluble amyloid fibrils, increasing the volume of the tongue massively, which causes it to mold against the dental arches, leaving characteristic lateral marks)
- Multiple myeloma (associated with the AL variant due to monoclonal protein deposition)
- Severe hypothyroidism / Myxedema (accumulation of mucopolysaccharides in the lingual stroma, as an endocrine differential diagnosis)
- Acromegaly (excess growth hormone causing generalized visceromegaly)
- Sarcoidosis or lingual tuberculosis (extremely rare chronic granulomatous infiltration).
Initial workup
Incisional biopsy of the lingual mucosa or, alternatively, core needle biopsy of the affected tongue for histopathological confirmation by Congo red staining and observation of apple-green birefringence; abdominal or rectal subcutaneous fat biopsy as a less invasive method; electrophoresis of serum and urinary proteins with immunofixation, and determination of the kappa/lambda free light chain ratio; tissue Doppler echocardiogram and cardiac magnetic resonance with late gadolinium enhancement (to urgently assess associated myocardial involvement, which determines vital prognosis); nocturnal polysomnography (to evaluate the degree of obstructive sleep apnea induced by macroglossia).
red flags
Presence of inspiratory dyspnea, upper airway stridor or perioral cyanosis that worsens in the supine position (indicative of imminent airway obstruction due to an enlarged tongue or prolapse of the base of the tongue into the hypopharynx); severe progressive dysphagia with repetitive episodes of coughing or choking during swallowing (with high risk of pneumonia due to silent or frank aspiration of food contents); progressive weight loss due to severe malnutrition secondary to the physical inability to chew and swallow adequately.
Standard management
- Daratumumab administered subcutaneously — selective CD38 antagonist; It drastically reduces the level of circulating light chains and favors the arrest of amyloid deposits at the lingual and visceral level.
- Cyclophosphamide — immunosuppressive and cytoreductive alkylating agent of clonal plasma cells
- Bortezomib — proteasome inhibitor; effectively stops the progression of cellular infiltrative disease
- Prednisone (systemic corticosteroid with moderate utility in the initial phase to reduce the inflammatory and edematous component of the infiltrated lingual tissues).
Educational guidance for study. It is NOT a prescription recommendation. The actual choice depends on the cause, the patient, and current guidelines.
- Area
- Hematology
- Listed causes
- 5
- Treatment options
- 4