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Clinical Cases in mineral and bone metabolism

Atypical presentation of Paget’s Disease of bone manifesting in the right humerus: a case report

Case report, 154 - 155
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Introduction. Paget’s Disease of the Bone (PDB) is the second most common metabolic bone disorder. However, making a diagnosis can be very challenging due to the likelihood of asymptomatic periods, non-specific presentations, and the absence of highly specific lab testing for this condition. PDB is often underdiagnosed and undertreated. The classic presentation of PDB is the incidental discovery of hyperactive bone remodeling on imaging studies. PDB is typically asymptomatic and most commonly manifests in the pelvis, spine, skull, or lower extremities and is often polyostotic in nature. This case report outlines a unique presentation of symptomatic, monostotic PDB located in the humerus. Case presentation. A 54-year-old male presents with right upper extremity pain that has progressed for the last two months. The pain is now unrelenting and severely affecting the patient’s quality of life. After a spinal X-ray showed a possible compression fracture of T7, a bone scan was ordered. The bone scan identified hyperactivity of the right humerus. An X-ray of the humerus, followed by CT-guided biopsy, demonstrated mixed lytic-sclerotic remodeling and thickened bony trabeculae with fibrotic marrow, respectively. Malignancy was ruled out with immunohistochemistry and a final diagnosis of PDB was made. The patient was treated with daily oral alendronate which leading to a reduction in pain and normalization of his serum alkaline phosphatase level. Conclusion. Although it is atypical for PDB to be symptomatic, it may present as severely debilitating bone pain. Making this diagnosis can have a significant impact on quality of life for the patient and is treatable due to the availability of an effective therapy. For this reason, Paget’s Disease of the Bone should be included in the differential diagnosis for bone pain in any location. This case serves as an example to the value of integrating radiologic, pathologic, and clinical findings to make an accurate diagnosis and to subsequently guide effective therapy.

Vol. XVI (No. 2) 2019 May - August

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