Paget’s disease is a long-term bone condition characterized by abnormal bone remodeling processes. Unlike healthy bones that undergo a continuous renewal process, Paget’s disease causes an excessive production of new bone, resulting in weak and deformed bones that are prone to fractures. In the later stages of the disease, the structure of the affected bones resembles fibrous tissue with blood vessels. Although Paget’s disease can affect any bone in the body, it most commonly affects the legs, spine, skull, and pelvis.
Symptoms of Paget’s Disease
Paget’s disease is characterized by various symptoms that result from the weakened and softer bones in affected individuals. These symptoms include chronic bone pain, stress or hairline fractures occurring without any trauma, and physical deformity. The specific symptoms experienced by a person with Paget’s disease depend on the location of the affected bones.
When Paget’s disease affects the pelvic bones, individuals may experience radiating pain across the pelvis and lower back. Numbness, tingling, and pain in a leg or arm may indicate that the disease is deteriorating the spine. In some cases, bone overgrowth in the skull can lead to headaches and hearing loss due to compression of the nerves.
Paget’s disease can also affect the leg, causing bones to enlarge and bend. This can result in deformity of the leg bones. The misshapen leg bones may be unable to provide adequate support for the body, leading to additional stress on the knee and hip joints. This increased stress can eventually contribute to the development of osteoarthritis in these joints.
Is Paget’s Disease Hereditary?
Paget’s disease, in many cases, has a hereditary component. Scientists have identified two genes, namely RANK and SQSTM1, along with specific regions on chromosomes five and six, that are associated with the development of this condition. However, it is important to note that Paget’s disease can also occur without any genetic link.
Approximately 40 percent of individuals who inherit Paget’s disease carry a mutation on the SQSTM1 gene. This gene is responsible for encoding the p62 protein, which plays a role in the function of bone cells. Moreover, mutations in the RANK gene have also been linked to Paget’s disease. RANK, short for “Receptor Activator of Nuclear Factor KB,” is a membrane protein found on the surface of osteoclasts. Osteoclasts are bone cells that are involved in the breakdown of bone tissue.