Paget's Disease

Paget's disease, otherwise known as osteitis deformans, is a chronic disorder that typically results in enlarged and deformed bones. It is named after Sir James Paget, the British surgeon who first described this disease. The excessive breakdown and formation of bone tissue that occurs with Paget's disease can cause bone to weaken, resulting in bone pain, arthritis, deformities, and fractures. Paget's disease may be caused by a slow virus infection, present for many years before symptoms appear. There is also a hereditary factor since the disease may appear in more than one family member.

Paget's disease is rarely diagnosed in people under 40 years of age. Men and women are affected equally. Prevalence of Paget's disease ranges from 1.5 to 8 percent depending on age and country of residence. Prevalence of familial Paget's disease (where more than one family member has the disease) ranges from 10 to 40 percent in different parts of the world. Because early diagnosis and treatment is important, after age 40, siblings and children of someone with Paget's disease may wish to have an alkaline phosphatase blood test every 2 or 3 years. If the alkaline phosphatase level is above normal, other tests such as a bone-specific alkaline phosphatase test, bone scan, or x-ray can be performed.

Symptoms

Many patients do not know they have Paget's disease because they have a mild case with no symptoms. Sometimes, symptoms may be confused with those of arthritis or other disorders. In other cases, the diagnosis is made only after complications have developed. Symptoms can include:

• Bone pain is the most common symptom. Bone pain can occur in any bone affected by Paget's disease. It often localizes to areas adjacent to the joints.
• Headaches and hearing loss may occur when Paget's disease affects the skull.
• Pressure on nerves may occur when Paget's disease affects the skull or spine.
• Increased head size, bowing of limb, or curvature of spine may occur in advanced cases.
• Hip pain may occur when Paget's disease affects the pelvis or thighbone.
• Damage to cartilage of joints may lead to arthritis.

Types of physicians

The following types of medical specialists are generally knowledgeable about treating Paget's disease.

• Endocrinologists -- Internists who specialize in hormonal and metabolic disorders.
• Rheumatologists -- Internists who specialize in joint and muscle disorders.
• Specialists -- Orthopedic surgeons, neurologists, and otolaryngologists (physicians who specialize in ear, nose, and throat disorders) may be called upon to evaluate specialized symptoms.