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. 99m Tc-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.

Clinical Characteristics and Pathogenic Gene Identification in Chinese Patients With Paget’s Disease of Bone

“…The prevalence of PDB is as high as 5% among people above 55 in Western countries (3,8,9); however, it is extremely rare in Asians, with only a few cases reported in China (1,(12)(13)(14)(15). To gain better insight into the clinical characteristics and reduce the rate of clinical misdiagnosis among Chinese patients, we analyzed the clinical features in 50 Chinese sporadic PDB patients.…”

“…Some studies reported intranational regional differences ( 4 – 7 ) and mainly affects people over 55 years ( 3 , 8 , 9 ). However, the disease is extremely rare in Asia and Africa ( 1 , 2 , 10 – 13 ). For instance, the incidence rate in Japan is merely 0.00028% ( 2 ).…”

“…For instance, the incidence rate in Japan is merely 0.00028% (2). So far as we know, the literatures on sporadic PDB in Chinese population are confined to case reports (12)(13)(14)(15), no systemic study is available with relatively large sample size up to date. In 2012, we reported our study in thirteen sporadic PDB patients (1).…”