Bone Health ECHO Case Report: Is it Paget's Disease?

Area of Science:

• Endocrinology
• Rheumatology
• Radiology
• Bone Metabolism

Background:

• A 54-year-old woman presented with polyarthritis and elevated serum alkaline phosphatase (ALP).
• Metabolic work-up revealed elevated bone-specific ALP and high bone turnover markers, including C-telopeptide (CTX).
• Initial diagnostic considerations included Paget's disease of bone (PDB).

Observation:

• Whole-body nuclear bone scan demonstrated diffuse calvarial uptake, suggestive of PDB.
• Skull X-rays showed mild sclerosis and medullary expansion, but PDB was deemed unlikely with high uncertainty.
• Dual-energy X-ray absorptiometry indicated osteopenia but a fracture probability below the treatment threshold.

Findings:

• The case highlighted diagnostic challenges in differentiating PDB from other causes of elevated ALP and bone turnover.
• Imaging findings were equivocal for PDB, necessitating further evaluation and expert consultation.
• The patient's presentation underscored the complexity of managing metabolic bone diseases.

Implications:

• Discussion within a virtual community of practice (Bone Health ECHO) aimed to enhance best practices in skeletal health care.
• This case emphasizes the importance of multidisciplinary collaboration in diagnosing and managing complex bone disorders.
• Sharing such cases can improve diagnostic accuracy and treatment strategies for patients with elevated ALP and bone abnormalities.