Lingual liability: macroglossia and dyspnoea as the harbinger of systemic AL (light-chain) cardiac amyloidosis

Abstract

A 58-year-old man presented with a chief complaint of tongue indentations and discomfort. Otolaryngology treated him for oral thrush with counselling to avoid tongue biting. In addition, the patient reported dyspnoea described as a decrease in tolerance of his physical activities. Due to continued increase in tongue size and worsening dyspnoea, he underwent a tissue biopsy with findings consistent with amyloidosis. Further evaluation with a bone marrow biopsy revealed underlying multiple myeloma. Echocardiography revealed abnormal ventricular wall thickness, with a reduced left ventricular chamber size, dilated atria and Doppler findings with restrictive filling patterns indicative of cardiac amyloidosis. The patient was initiated on chemotherapy for his multiple myeloma and supportive therapy for his cardiac amyloidosis. Light-chain amyloidosis (AL) is a systemic disease characterised by irreversible deposition of amyloid in tissues throughout the body; when there is cardiac involvement, it can result in heart failure with a poor prognosis. Early diagnosis of cardiac amyloidosis can lead to prolonged survival.

Light-Chain Cardiac Amyloidosis: A Case Report and Review of the Literature

“…Cardiovascular dysfunction caused by AL maybe a major determinant of reduced survival in patients with multiple myeloma (32). Early diagnosis of cardiac amyloidosis can lead to prolonged survival (33). Despite new treatment strategies, early death rate of AL cardiac amyloidosis still remains very high (34).…”

Macroglosia en Amiloidosis Primaria como Clave Diagnostica: Reporte de un Caso

“…La expectativa de vida de estos pacientes desde la aparición de los síntomas varia entre 6 meses a 3 años aproximadamente, y su tratamiento consiste principalmente en quimioterapia (Williams et al, 2018).…”

Atypical macroglossia caused by multiple myeloma‐associated systemic amyloidosis with severe lingual movement disorder and tongue sclerosis

“…Light-chain (AL) amyloidosis is a well-known systemic disease in which amyloid is irreversibly deposited in tissues throughout the body. 1 AL amyloidosis is generally known to be caused by a clonal population of plasma cells in the bone marrow that produce a monoclonal kappa or lambda type light chain. 2 In terms of the oral symptoms of amyloidosis, the most common site of amyloidosis is the tongue, such as in macroglossia associated with systemic AL amyloidosis.…”

“…Light‐chain (AL) amyloidosis is a well‐known systemic disease in which amyloid is irreversibly deposited in tissues throughout the body 1 . AL amyloidosis is generally known to be caused by a clonal population of plasma cells in the bone marrow that produce a monoclonal kappa or lambda type light chain 2 .…”