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

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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