Paget's disease is a chronic disease that develops as a result of impaired bone remodeling, leading to an increase in bone size and deformity, manifested by bone pain, pathological fractures and arthritis of nearby joints, in rare cases with the development of a malignant process (Paget's sarcoma). In most cases, the axial skeleton and its sections such as the pelvis, femur, tibial bone, lumbar spine, scapula, skull bones are affected [1] .
| Paget's Disease | |
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| ICD-10 | M 88.0 |
| ICD-10-KM | |
| OMIM | , and |
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Content
Epidemiology
The frequency of the disease is 1.5-8% in the population. More often than 50-55 years old men suffer from this disease. Caucasians get sick more often. Cases of the disease in the Scandinavian countries, Asia are rare.
Etiology
Currently, the exact cause of the disease is not known, however, there are the following theories about the causes of Paget's disease:
- ecological;
- viral;
- genetic.
More and more factors incline physicians to assume the genetic etiology of the disease. Mutations in the SQSTM1 genes (encodes p62 protein that regulates the function of osteoclasts ), RANK (encodes the nuclear factor activator receptor kV - membrane type 1 protein, expressed on the surface of osteoclasts involved in their activation upon binding to the ligand), as well as loci 5q31 and 6p.
Viral etiology is not fully proven, however, it is assumed that the virus activates the abnormal activity of osteoclasts only in a genetically predisposed patient.
Pathogenesis
In the pathogenesis of the disease, 4 stages are distinguished:
- Stage of increased osteoclast activity.
- Stage osteoclasto-osteoblastic activity.
- Stage of increased osteoblast activity.
- Stage malignant degeneration .
In almost 40% of patients, a burdened family history, characterized by an autosomal dominant mode of inheritance, is detected [2] .
Clinical picture
Patients complain of severe bone pain, bone deformities, deafness and pathological fractures, however, there are cases of asymptomatic disease. The femoral and tibial bones are most susceptible to deformities, as they experience greater loads of body weight. Deafness can be caused by compression of the auditory nerve or due to osteosclerosis of the temporal bone.
In severe cases of Paget's disease (15% of cases), the formation of arteriovenous fistulas in the bones occurs with the development of such cardiovascular pathology as cardiac hypertrophy , heart failure, mitral valve calcification [1] .
Neurological symptoms can be observed: excessive pressure on the brain, spinal cord, nerve roots, reduction (robbery syndrome) of the blood supply to the brain and spinal cord, hearing and visual impairment.
A rare (less than 1% of patients) complication of Paget's disease is osteosarcoma [2] .
Diagnostics
Standard biochemical research has a great diagnostic value, as in more than 80% of cases an increase in alkaline phosphatase activity is detected.
The main instrumental method of diagnosis is radiography. Typical radiological signs are osteoslerosis , alternating areas of osteolysis, bone growth and deformity. Bone scintigraphy can be performed, which will determine the incidence of the disease and identify possible asymptomatic bone lesions. In case of possible metastatic bone lesion, a bone biopsy should be performed.
Treatment
First of all, treatment should be aimed at relieving pain status. Assign analgesics or NSAIDs , if these measures are ineffective, you should use bisphosphonates. Aminobisphosphonates (zoledronic acid) are the drugs of choice for Paget's disease. They inhibit biochemical markers of bone metabolism. For resistance to this therapy, synthetic calcitonin is used as an alternative [1] .
Notes
- β 1 2 3 E.A. PIGAROVA. PEDZHET'S ILLNESS: PRESENTATION OF ENDO CLINICAL RECOMMENDATIONS AND ACTUALIZATION OF THEIR IN RUSSIA // No. 1/2016 Osteoporosis and Osteopathy. - 2016.
- β 1 2 Davidson (ed. By NA Mukhin). Internal diseases according to Davidson. - 1. - GEOTAR-MEDIA, 2010. - P. 208-210. - 240 s. - ISBN 978-5-91713-022-4 .