Ptosis and macroglossia in a woman with systemic light-chain amyloidosis

Amyloidosis is a rare and variable disease, characterized by extracellular deposits of amyloid protein in different tissues and organs. Patients may present with a range of symptoms, depending on the extent of involvement. Rapid, accurate diagnosis is still challenging in clinical practice.

A 72-y-old woman presented with a 1-y history of droopy upper left eyelid, resulting in decreased visual acuity, and progressive tongue swelling, resulting in dysarthria, dysphagia, and sleep apnea. Physical examination revealed puffy eyes, moderate swelling up to 1 cm of the upper left eyelid, swollen submental region, and protrusion of the tongue, causing an inability to close the mouth. An abnormal serum free light chain ratio implied the presence of monoclonal gammopathies, and Congo red staining revealed amyloid deposits in specimens from both the tongue and left eyelid. Therefore, a diagnosis of systemic light-chain (AL) amyloidosis was confirmed. The patient then received oral melphalan therapy and surgical intervention for macroglossia. Clinical symptoms including dysarthria, dysphagia, and sleep apnea were under control at 6-month follow-up.

We report an uncommon case presenting initially with both ptosis and macroglossia, for which a final diagnosis of systemic AL amyloidosis was made. Detailed history and laboratory investigation must be implemented on suspicion of amyloidosis, because early recognition of amyloid-associated diseases and appropriate treatment can improve clinical outcomes.