By Dr Ananya Mandal, MD
Paget’s disease is a rare bone disease that is characterized by enlarged, deformed and brittle bones that easily fracture. The disease is thought to be inherited with several genes leading to increased susceptibility.
Paget’s disease commonly affects the elderly and is more common in men than women. People of the Anglo Saxon descent are more prone to this condition while people from African or Asian origin are least at risk.
Symptoms of the condition can be outlined as follows (1-6):
No symptoms of the disease
In many patients there may not be any symptom of the condition. In these patients a routine X ray or blood test for another condition may reveal the disease as a chance finding.
Age and sex
Normally the disease is diagnosed in people over the age of 40. Men are a little more commonly affected than women. For every 3 men diagnosed with the condition there are 2 women affected.
Bones affected commonly are the spine or vertebrae, skull, long bones of the arms and legs and the pelvis or the hip bones. In one third of cases the disease is monostotic and affects a single bone and in two third of the cases the disease is polyostotic and affects two or more bones.
This is the most common symptom of Paget’s disease. The pain is due to rapid formation of new bone that may lead to bone fractures or pinching of vital surrounding nerves. Pain may be present at rest, at night and on movement but does not tend to be focused around a particular nearby joint.
Recurrent and easy fracture of the bones that are affected. Due to repeated breakdown and remodelling of the bones they are liable to fractures that are caused even with minor trauma or injury.
Bone deformity can be caused by enlarged and hyperactive bone formation. This affects the surrounding structures like nerves etc. leading to pain.
Compression of the nearby nerves may also lead to paralysis or numbing of sensation of the nearby regions. For example affliction of spine and pelvis leads to sciatica and those from the neck and arms leads to cervical radiculopathy.
Bowing of the legs
Due to weak and soft bones of the legs, weight bearing may lead to bowing or bending of the legs.
Joints near the affected bone are painful with arthritis. This may hamper joint mobility.
There may be hearing loss if the bones of the skull are affected. Normally hearing takes the help of conducting sound waves and vibrations via tiny bones inside the ear.
When the skull is affected hearing mechanism may be hampered. There may be symptoms of tinnitus or ringing of the ears as well.
In addition there may be headaches if the skull is involved due to pressure on nerves and blood vessels. Some patients also develop a larger size of the head.
Skin temperature may be increased over areas of active disease or the affected bones.
Bones that have a high blood supply may also lead to heavy bleeding if affected. Due to high blood supply to these bones the heart may develop heart failure due to its inability to pump blood.
Excessive calcium in the bloodstream
Excessive Calcium from bone breakdown is released into the blood stream. This leads to features such as weakness, fatigue, loss of appetite, constipation and abdominal pain. The heart pumps in more blood to the affected bone compared to normal.
Paralysis of limbs
There may be paralysis of one or more limbs if the spine is affected.
Paget’s disease and bone cancer
If the pain is severe and uncontrolled with medication the disease may have degenerated into a bone cancer. This is called Paget's sarcoma occurs in only about 1 percent of patients with Paget's disease. If affects patients with Paget’s disease over 70 years of age.
Progression of symptoms
Symptoms get worse slowly, and the disease does not spread to other bones.
Reviewed by April Cashin-Garbutt, BA Hons (Cantab)
Last Updated: Jul 25, 2012