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Blue Sclerae and Differential Diagnosis in Chest Pain: A Case Report

Luana C Miantti Ghellere Bonfim1, Isadora S Guerini2, Marjorie G Zambon3

  • 1Department of Medicine, University of South Santa Catarina, Florianopolis, BRA.

Cureus
|September 18, 2023
PubMed

Insights

Osteogenesis imperfecta, a connective tissue disorder, often presents beyond bone fragility. This case highlights its complex diagnosis in an elderly patient with chest pain and fractures, emphasizing thorough evaluation.

Area of Science:

  • Genetics
  • Connective Tissue Diseases
  • Geriatric Medicine

Background:

  • Osteogenesis imperfecta (OI) is a group of genetic disorders characterized by bone fragility.
  • It is a complex connective tissue disorder with varied clinical manifestations beyond skeletal fragility.
  • Early and accurate diagnosis is crucial for managing complications and improving patient outcomes.

Observation:

  • An elderly patient presented with acute chest pain and a history of multiple fractures.
  • Blue sclerae were noted, a potential phenotypic marker for OI.
  • Initial cardiac investigations were unremarkable, prompting a broader diagnostic approach.

Findings:

  • The patient's constellation of symptoms and history suggested underlying OI.
  • Diagnostic challenges were encountered due to the patient's age and atypical presentation.
  • Comprehensive evaluation, including assessment of connective tissue markers, was essential.

Implications:

  • This case underscores the importance of considering OI in elderly patients with unexplained fractures and other connective tissue signs.
  • It highlights the need for integrated diagnostic strategies in geriatric patients with complex hereditary conditions.
  • Recognizing diverse OI presentations is key to timely intervention and management in aging populations.

Keywords:
blue scleraechest painconnective tissue disorderscostochondritisosteogenesis imperfectascoliosisskeletal dysplasia

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