CHICAGO - Margaret Seton, MD, presented the history of Paget’s disease, along with her experiences as a rheumatologist treating the disease at Brigham and Women’s Hospital, at the American College of Rheumatology State-of-the-Art Clinical Symposium, here.
According to Seton, Paget’s disease of bone was first described by Sir James Paget in 1876 as osteitis deformans because he thought the gradual progression of bone remodeling that led to deformity was due to inflammation of the bone.
Paget followed his first patient for 26 years. The patient developed an enlarged head, abnormal curvature of the spine, rounded left femur and tibia, and involvement of the left distal radius. In 1844, the patient’s hat circumference was 22.5 inches, which increased to 27.25 inches by 1876.
“To have your head grow by 5 inches is a really stunning evolution in life,” Seton said. “Untreated Paget’s causes such profound bone remodeling that at the end of the remodeling phase, you are left with net bone accrual.”
Complications of Paget’s disease include pain and nerve compression syndromes due to the overgrowth of bone. Seton said patients who present with Paget’s disease at a young age in the spine may later develop spinal stenosis.
Fractures are another consequence of the disease, according to Seton.
“The structural integrity of bone is compromised,” she said, noting that metabolic diseases are rare today due to better treatments.
Collagen deposits within the bone formation and rearrangement also compromise the structural integrity of the affected bones. Osteogenic sarcoma, another potential complication, is rare and affects less than 1% of patients with Paget’s disease, according to Seton.
By the time Paget’s disease is diagnosed by biopsy, normal cellular marrow is not seen, and the characteristics of the initial lesions are unknown, Seton said.
A genetic association is seen in about 50% of patients who have family members with the disease and in 15% of those Seton described as “sporadic patients,” suggesting other causes may be present.
“The genetics by themselves are not sufficient [to explain onset of the disease],” Seton said. “We think [the disease trigger] may be something in our environment, in the way we live and the health of bone when we were children or adolescents.”
Some evidence supports a viral infection as a cause or trigger of the disease, but Seton said the topic is controversial. - by Shirley Pulawski
Seton M. Session III, presentation #2. Presented at: American College of Rheumatology State-of-the-Art Clinical Symposium; May 2-3, 2015; Chicago.
Disclosure: Seton reports no relevant financial disclosures.