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Macroglossia, the first manifestation of systemic amyloidosis associated with multiple myeloma: Case report
A Maturana-Ramírez1, A V Ortega2, F C Labbé3
1Department of Oral Pathology and Medicine, School of Dentistry, University of Chile, Santiago, Chile; Therapeutic Diagnostic Center Odontology and Pathological Anatomy Service, Hospital Complex San José, Santiago, Chile.
Abstract:
Amyloidosis is a group of diseases characterized by an irreversible and extracellular deposition of fibrillar, amorphous protein known as amyloid in different organs and tissues. Amyloid deposits may occur locally in tissues or may involve various organs, resulting in a wide range of clinical manifestations. Amyloidosis of the head and neck is rarely seen and can reflect some plasma cell dyscrasia that affects B lymphocytes. Deposition of amyloid on the tongue is very rare and accounts for less than 9% of all types of amyloidosis. Amyloid involvement of the tongue is almost always secondary to systemic amyloidosis. We report a 73-year-old female who presented with weight loss and macroglossia. Firstly, she was diagnosed only with amyloidosis of the tongue. Her general health condition was evaluated, revealing renal dysfunction, anemia, hypercalcemia, and hyperphosphatemia. The final diagnosis was systemic amyloidosis with multiple myeloma. The patient was referred for emergency hemodialysis and chemotherapy. Her condition progressed to congestive heart failure and recurrent urinary and respiratory infections. After 100 days from diagnosis, the patient died by pulmonary infection as a consequence of her weakened state of health. It is important to highlight role of the dentist especially oral pathologist to the evaluation of local alterations that may reflect systemic deterioration of patients.
Insights
Amyloidosis, a rare condition involving protein deposition, can manifest in the tongue and indicate systemic disease. Early dental evaluation is crucial for detecting systemic amyloidosis and multiple myeloma.
Area of Science:
- Medicine
- Pathology
- Oncology
Background:
- Amyloidosis involves irreversible extracellular deposition of amyloid fibrils in organs.
- Head and neck amyloidosis is rare, potentially indicating plasma cell dyscrasias.
- Tongue amyloidosis is exceptionally rare, often secondary to systemic disease.
Observation:
- A 73-year-old female presented with weight loss and macroglossia (enlarged tongue).
- Initial diagnosis was localized tongue amyloidosis, but systemic evaluation revealed renal dysfunction, anemia, hypercalcemia, and hyperphosphatemia.
- The patient was ultimately diagnosed with systemic amyloidosis secondary to multiple myeloma.
Findings:
- Systemic amyloidosis with multiple myeloma led to severe health complications.
- The patient required hemodialysis and chemotherapy but developed congestive heart failure and infections.
- Mortality occurred within 100 days due to pulmonary infection.
Implications:
- Oral manifestations, like tongue amyloidosis, can be critical indicators of underlying systemic diseases.
- Dentists and oral pathologists play a vital role in identifying early signs of systemic deterioration.
- Prompt diagnosis and management are essential for patients with systemic amyloidosis and multiple myeloma.
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