Paget's Disease: A legacy in bones of family

Dec 10 2008 by Andrew Baldwin, Huddersfield Daily Examiner

Paget’s Disease is one which fails to make the headlines and yet, as ANDREW BALDWIN reports, it affects about 8% of the population over 40 years old. It’s also a disease that can be passed down the generations

PAGET’S disease runs in Jean Armitage’s family.

Her grandfather had it, as did her mother, four aunts and an uncle, all with various bone deformities.

“My mother’s eldest sister was the worst affected. She had a very bad, bent leg and ended up in a wheelchair,” recalls Jean, who lives in Armitage Bridge.

Paget’s disease is a chronic disorder which occurs when the normal process of bone remodelling goes out of control, resulting in the formation of new abnormally structured bone.

It may occur in one or many parts of the skeleton and causes bones to be painful and to press on neighbouring nerves or to fracture easily.

If the disease is in the skull it can result in deafness; if in the long bones of the leg a bowing deformity may develop. It is usually a very slow progressive disorder.

About 8% of the population over 40 years old may be affected.

Yet Paget’s remains a low-profile condition, not widely recognised by many GPs, and is unlikely to often trouble the health pages in the national press.

Jean, aged 71, asked to be tested for Paget’s when her mother died but an x-ray failed to detect the condition.

It wasn’t until the age of 59, when she had a blood test for another condition, that her Paget’s came to light.

At the same time her eldest son Kevin, in his mid 40s, was also diagnosed although he has no symptoms as yet.

Jean, who for years had post-menopausal hot flushes, now has other typical symptoms; she has difficulty with her spectacles fitting because of the slight deformity of her skull, she has some headaches and is going a little deaf. Her pelvis is also affected.

Her condition has been kept largely under control after injections of a bisphosphonate drug.

Jean’s children were anxious to know if they might also be at risk of Paget’s disease in view of the family history and they asked if they could have a test for the faulty gene.

Three of Jean’s other four children took the test and all were proved to have the defective gene. They have been told they will all probably develop Paget’s in later life.

“I was frightened of passing Paget’s onto them, which I have, and they are now worried about passing in on to their children,” says Jean.

She has ten grandchildren and two great-grand children and wonders if Paget’s will always remain in her family.

“But there are much better treatments now and they will have a much better chance than me,” she says.

According to Marilyn McCallum, chief executive of the National Association for the Relief of Paget’s Disease, it’s hard to know exactly how many people have the condition because it is not always diagnosed.

Estimates vary from between 250,000 and 750,000 UK cases.

“If an older person goes to their GP and says they have got pain in their leg they are likely to be told they have osteoarthritis,” she says.

“They are most likely to be diagnosed if they have a blood test for something else and the Paget’s shows up, or if they have a health MOT check. But knowing what condition you have got is important, as is knowing there is effective treatment.”

A £483,000 research project funded by the Arthritis Research Campaign is being conducted over five years by Professor Stuart Ralston, of Edinburgh University.

The study will recruit a total of 735 people between the ages of 25 and 40 whose parents have Paget’s disease and who are found, on testing, to have the faulty gene.

Recruitment will start in Edinburgh, Manchester, Liverpool and Sheffield, and also be expanded to Canada and centres in Europe.

Prof Ralston says: “If the people who are likely to develop Paget’s later in life can be identified in middle age, there is a chance to stop the disease in its tracks.”

Paget’s disease normally affects older people and is rare under the age of 40.

It is named after Sir James Paget (1814-1899), the British surgeon who first described this disease.

There are more cases in men than in women.

It’s more widespread in Europe, North America and Australia. It is rare in people of African or Asian origin.

The condition occurs more often in the UK than anywhere else in the world, with up to one million people affected here.

Many people with Paget’s disease have no symptoms and only find out they have the disease by chance when having an x-ray.

When symptoms occur they may include bone and joint pain, leg bowing, skull enlargement or curvature of the spine, muscle weakness due to bones pressing on nerves and arthritis.

Paget’s disease of bone is not the same as Paget’s disease of the breast and genitals, which is a type of skin cancer.

Loss of earning in one or both ears may occur when the disease affects the skull and the bone that surrounds the inner ear. It is believed by some that the disease was responsible for Beethoven’s deafness.