Paget’s disease of bone: Report of 11 cases

Abstract

BACKGROUND

Paget’s disease of bone (PDB) is a rare metabolic bone disease in China and is characterized by increased bone resorption and disorganized bone formation. The main clinical symptoms of PDB are focal or multiple bone pain and deformity with high disability. The disease has high missed diagnosis and misdiagnosis rates. This report summarizes the clinical manifestations, imaging and pathological features, and treatments of 11 patients with PDB at our hospital from 1993 to 2020 in order to improve the recognition and prognosis of PDB.

CASE SUMMARY

There were eight male and three female patients whose average age was 48.7 ± 11.0 years with a PDB course of 1-16 years. Nine patients had bone pain and bone deformities in different parts of the body, the majority of which involved the long bones. Laboratory examinations revealed elevated serum alkaline phosphatase (ALP) in all patients with an average of 618 ± 460 IU/L (normal range 0-130 IU/L), and serum calcium and phosphorus levels were in the normal range. Imageology showed that osteolysis was usually combined with osteosclerosis and/or bone deformities in single or multiple bones. ^99mTc-methylene diphosphonate bone scintigraphy revealed increased radionuclide uptake in the bone lesions. Six patients underwent bone tissue biopsy, and the typical pathological changes were a mosaic structure of the bone trabeculae with irregularly arranged cement lines and multinuclear osteoclasts. Ten of the 11 patients were effectively treated with bisphosphonates.

CONCLUSION

Early diagnosis of the rare disease PDB can be made through elevated ALP levels and typical presentations on bone X-ray and from bone tissue biopsy.

Keywords: Paget’s disease of bone, Metabolic bone diseases, Chinese, Case report

Core Tip: Paget’s disease of bone (PDB) is a rare metabolic bone disease in China that has high missed diagnosis and misdiagnosis rates. We retrospectively summarize the clinical data of 11 patients with a diagnosis of PDB to provide additional clinical evidence for the disease. We found that PDB presented with a predisposition toward the older male population, and the main clinical symptoms were bone pain, deformity, and a high risk of disability. Early identification of PDB can be made through elevated alkaline phosphatase levels and typical presentations on bone X-ray and from bone tissue biopsy. Bisphosphonates are the first choice to improve the symptoms and prognosis.