What are the typical symptoms of the initial presentation of Paget's disease in an older adult?

Initial Presentation of Paget's Disease of Bone

Most patients with Paget's disease of bone are asymptomatic at initial presentation, with the diagnosis typically made incidentally through elevated serum alkaline phosphatase on routine blood work or abnormal findings on imaging performed for unrelated reasons. 1, 2, 3

Common Clinical Presentations

Asymptomatic Discovery (Most Common)

• Incidental elevation of serum alkaline phosphatase on routine laboratory testing is the most frequent mode of detection 2, 3
• Abnormal radiographic findings discovered during imaging for unrelated conditions 2, 3
• Disease typically affects patients over 55 years of age, with prevalence of 1-2% in this population 2, 3

Symptomatic Presentations (When They Occur)

When symptoms are present, the clinical picture depends on which bones are affected:

Bone Pain

• Pain in the affected bone is the most common symptom when the disease is symptomatic 4, 3, 5
• Pain may occur at rest and during the night 4

Site-Specific Manifestations

• Pelvis, spine, skull, and long bones are the most commonly affected sites 1, 3
• Bone deformities may be visible, particularly in advanced disease 4, 1
• Pathological fractures can occur due to weakened bone structure 2, 3

Neurologic Complications

• Hearing loss (bilateral progressive) is the most frequently encountered complication, which can be conductive, sensorineural, or mixed 6, 7, 3
• Nerve compression syndromes from bone expansion 3
• Headache and dizziness when temporal bone or skull is involved 7

Musculoskeletal Complications

• Arthritis in joints adjacent to affected bones 2, 3
• Gait changes from skeletal deformity 3

Key Diagnostic Features to Recognize

Patient Demographics

• Age of onset typically over 50 years (usually 55+ years) 4, 1, 2
• Male-to-female ratio shows men at higher risk 3
• Family history of Paget's disease may be present 4, 1

Laboratory Findings

• Elevated alkaline phosphatase is the hallmark biochemical finding 4, 8, 1
• Calcium, phosphate, and parathyroid hormone levels should be measured to exclude other metabolic bone diseases 8

Imaging Characteristics

• Mixed osteolytic and osteosclerotic appearance on plain radiographs is pathognomonic 4, 1
• Characteristic bone deformities on imaging 4, 1

Critical Differential Diagnosis Considerations

Paget's disease must be distinguished from malignant bone tumors, particularly in older adults. 4 Key distinguishing features include:

• Family history of Paget's disease (favors Paget's) 4, 1
• Pelvic or skull localization (typical for Paget's) 4, 1
• Raised alkaline phosphatase without other systemic symptoms 4, 1
• Age of onset usually >50 years 4, 1
• Mixed osteolytic and osteosclerotic pattern on imaging (characteristic of Paget's) 4, 1

Important Pitfall to Avoid

In patients over 40 years presenting with bone lesions, metastatic carcinoma is more likely than primary bone malignancy, so appropriate cancer screening should be performed before assuming Paget's disease 4. However, the mixed lytic-sclerotic pattern and elevated alkaline phosphatase strongly favor Paget's disease over metastatic disease 4, 1.

Rare but Serious Presentations

• Osteosarcoma transformation occurs in <1% of cases but represents a devastating complication 3
• Cardiac complications from high-output cardiac failure in extensive disease 5
• Vision problems when skull base is involved 5