Related articles: Paget's disease
Definition
Paget's disease of bone is a chronic pathology of the skeleton, characterized by accelerated and disordered bone turnover. It follows that some skeletal areas become metabolically hyperactive and richly vascularized, so the normal bone matrix is replaced by a new bone that is not adequately mineralized, weakened and subject to fractures. The newly formed bone can gradually increase in volume, decrease its biomechanical efficiency and load resistance, with effects also on contiguous structures (eg compressive neuropathy and arthrosis).
The exact cause of Paget's bone disease still remains unknown, although it cannot be excluded that the genesis of the disease may be multifactorial. The risk that the pathology arises is related to the increase in age: it is rarely diagnosed in people under the age of 40. Furthermore, several genetic abnormalities, such as mutations in the Sequestrum 1 gene (chromosome 6), are associated with Paget's disease.
Most common symptoms and signs *
- Tinnitus
- Asthenia
- Kidney stones
- Neck pain
- Knee pain
- Hip pain
- Bone pain
- Articolar pains
- Muscle pains
- Bone fractures
- hypercalcemia
- Hearing loss
- macrocephaly
- Backache
- Headache
- Paraplegia
- Paresthesia
- Spinal stenosis
- Spastic tetraparesis
- Bone swelling
- Dizziness
Further indications
The disease can be asymptomatic for a long period of time, to then cause the gradual onset of pain, joint stiffness, weakening, skeletal deformations (enlargement of the segments involved, bending of the bones, etc.) and increased risk of fracture. Bone pain is dull, deep and present most of the time. In some cases, skin temperature may increase in areas where the disease is active.
Paget's disease is typically localized and affects only one or a few bones (as opposed to osteoporosis). It can affect any bone, but most commonly affects the pelvis, femur, skull, tibia, vertebrae, clavicle and humerus.
Other symptoms depend on the affected bone segment and may include bone fractures, bowing of long bones, osteoarthritis and compression of nerves, joints and other structures. If the skull is involved, headaches and hearing impairments (hearing loss and tinnitus) may occur. Furthermore, visible deformities may appear, including the prominence of the frontal drafts and the enlargement of the skull bones. Over time, neurological, cardiac, metabolic or rheumatologic complications may arise. Some cardiovascular diseases, such as ventricular hypertrophy and heart failure, may result from Paget's disease with skeletal involvement greater than 15%.
In some patients, increased bone formation and calcium demand may induce secondary hyperparathyroidism. Rarely, a sarcomatous degeneration develops (malignant tumor of the bone). In most cases, Paget's bone disease is slowly evolving, although periods of stability can alternate with periods of rapid progression.
Currently, early diagnosis and drug therapy, especially if applied before complications arise, allow the disease to be effectively controlled. Typically, the diagnosis is defined with a radiological examination or a routine biochemical evaluation. Bone scintigraphy determines the degree of bone involvement, while bone biopsy is only necessary if an osteosarcoma is suspected. Paget's disease therapy includes symptomatic measures and drugs, usually bisphosphonates.
