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Macroglossia secondary to systemic amyloidosis: case report and literature review
Sandra Doria Xavier1, Ivo Filho Bussoloti, Helena Müller
1Department of Otorhinolaryngology, Santa Casa of São Paulo College of Medicine, São Paulo, Brazil. ssandoria@yahoo.com.br
Abstract:
Amyloidosis is characterized by an abnormal extracellular deposition of amyloid in different tissues and organs, where it usually causes some type of dysfunction. Its cause is unknown. The two main forms of amyloidosis are systemic and localized; the latter is rare. No satisfactory treatment for systemic amyloidosis has been discovered, and mean survival is poor, ranging from 5 to 15 months depending on the presence or absence of multiple myeloma. We report a case of primary systemic amyloidosis in a 71-year-old man. The diagnosis of amyloidosis was established by tongue biopsy, and its systemic nature was identified by analysis of aspirated abdominal fat. At the 1-year follow-up, the patient's clinical condition had not changed, and he was thereafter lost to follow-up.
Insights
This case report details primary systemic amyloidosis in a 71-year-old man. Diagnosis involved tongue biopsy and abdominal fat analysis, with no change at 1-year follow-up.
Area of Science:
- Medicine
- Pathology
- Rare Diseases
Background:
- Amyloidosis involves abnormal extracellular amyloid deposition, leading to organ dysfunction.
- Systemic amyloidosis has poor prognosis and limited treatment options.
- Primary systemic amyloidosis is a rare condition with unknown etiology.
Observation:
- A 71-year-old male presented with primary systemic amyloidosis.
- Diagnosis was confirmed via tongue biopsy.
- Systemic involvement was identified through aspirated abdominal fat analysis.
Findings:
- The patient's condition remained stable at the 1-year follow-up.
- No significant clinical improvement or deterioration was noted.
- The patient was subsequently lost to follow-up.
Implications:
- Highlights diagnostic methods for primary systemic amyloidosis.
- Underscores the chronic, stable course observed in some cases.
- Emphasizes the challenges in long-term patient follow-up for rare diseases.
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