Paget’s Disease Treatment

About

Causes

Symptoms

Diagnosis

Treatment

About

Paget’s Disease Treatment

What is Paget's disease?

Paget's disease is a rare, chronic bone condition that involves the rapid destruction of old bone and the growth of new bone. The new bone is usually more deformed, dense, and fragile than the original bone that was altered. The bone changes may cause pain, bone deformities, an increased chance for fractures and arthritis.

Who can develop Paget's disease?

About two percent of Americans have Paget’s disease. Paget’s disease can occur in all races and ethnicities; however, Asian populations appear to be less impacted with this bone condition. European descendants have been shown to develop this condition the most among other ethnicities. Men and women both can develop this disease, but men have been shown to develop the disease slightly more than women. It usually also appears in older age groups that are usually over 55 years of age. 

Where does Paget's disease occur?

The condition can occur in any bone. More than one bone can be affected at the same time. Additionally, a portion of the bone or the entire bone can be affected when this disease occurs. The most common bones that present with Paget’s disease are:

  • Spine
  • Skull
  • Pelvis 
  • Lower legs

Causes

What is the cause of Paget's disease?

The cause of Paget’s disease is unknown. It is believed to be sporadic in nature with no real reason behind its development. It is believed that bone absorption is abnormally higher than it should be due to osteoclasts being more active than osteoblasts. Osteoblasts, in response, make too much bone as it is trying to catch up with the overactive osteoclasts. Unfortunately, the new bone is abnormally shaped, less organized, brittle, and too large. This bone is more susceptible to fractures, deformities, and bowing.

What are the risk factors for Paget's disease?

There are some theories that show different risk factors for Paget’s disease. They include:

  • Genetics - there appears to be a high tendency of developing Paget's disease if a family member is also known to possess the condition. Additionally, there are some known genes that have been specifically linked to Paget’s disease:
    • sequestosome 1 gene
    • TNFRSFIIA gene 
    • VCP gene
  • Environmental factors - another popular theory is that this condition is due to a virus that slowly infects the bone.

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Symptoms

What are the symptoms of Paget's disease?

Paget’s disease usually only involves minor symptoms, and for some individuals, they may not develop any symptoms whatsoever. The diagnosis is usually accidental and occurs after an x-ray may have been obtained for a different reason. If there are symptoms associated with Paget's disease, they include:

Early symptoms

  • Pain in the bones and joints
    • Most common complaint
  • Headaches
  • Enlargement and bowing of bones
    • Thighs
    • Lower legs
    • Forehead

Later symptoms

  • Gait changes
  • Arthritis
  • Fractures
  • Further deformity of bones
  • Muscle and sensory disturbances
  • Hearing loss
  • Vision loss
  • Hydrocephalus 
  • Constipation
  • Abdominal pain
  • Loss of appetite
  • Weight loss

What complications are associated with Paget's disease?

Some complications may include:

  • Spinal stenosis
  • Congestive heart failure
  • Tumors of the bone (known as Paget’s sarcoma)

Diagnosis

How is Paget's disease diagnosed?

In order to properly diagnose Paget’s disease, your healthcare provider will obtain a thorough medical history and perform a physical examination. Other diagnostic tests will also be performed to help with the diagnosis.

Are there any diagnostic tests that can be performed to confirm Paget's disease?

Various diagnostic tests are used in conjunction with a medical history and a physical exam to make a diagnosis. They include:

  • Alkaline phosphatase - a blood test that when elevated may be an indication for Paget’s disease.
  • X Ray - used to determine bony remodeling and deformities caused by the disease. A hallmark finding is usually bowing of the affected bone.
  • Bone scan - helpful with showing the extent of the bone deformity related to the condition as it can indicate multiple bones that may be affected.
  • Urinalysis - also helpful with the diagnosis of Paget’s disease as it shows rapid bone turnover. Examples of these tests include:
    • Pyrilinks
    •  Osteomark
  • Biopsy - can be helpful for a more definitive diagnosis as the tissue removed can be evaluated microscopically. Usually performed through a needle or small open procedure.

What other conditions can mimic Paget’s disease?

  • Osteoporosis
  • Spinal stenosis
  • Osteoarthritis

Treatment

What are treatment options for Paget's disease?

Treatment for Paget’s disease usually revolves around slowing the progression of bone destruction as there currently is no cure for this disease. Also, once the bone damage has occured there are no treatments available to undo the damage already done. If there is pain associated with Paget’s disease, this is usually managed with medications called analgesics  (Ibuprofen, Tylenol, Percocet, etc.). The most effective treatment for moderate to severe pain associated with Paget’s disease is bisphosphonates, as they help strengthen the bone damaged from the condition. Sometimes these medications will be used regardless of pain depending on the location the disease may manifest to prevent serious complications (i.e. the skull). 

Other treatment options include:

  • Supplements - vitamin D and calcium is usually recommended in conjunction with some of the medications used for Paget’s disease. Some medications have been shown to lower calcium levels and supplements may help offset this and reduce complications associated with pharmacological treatments. 
  • Surgery - usually required for displaced or severe fractures, severe deformities, or major arthritic changes in the joint from Paget’s disease. Internal fixation of hardware, such as screws, may be used for fractures. Osteotomies to reposition deformed bones are another surgical approach for Paget’s disease. Lastly, joint replacement surgery may also be required depending on the severity of joint damage from arthritic changes to the joint.

Although Paget's disease is a rare condition with some serious complications that may occur, patients can live a full, active life. The key is to be educated on the condition and learn more about your treatment options if complications occur. TeleMed2U has several qualified healthcare professionals that are always available to help develop a treatment plan for your condition whenever it is needed.

References

Altman, R. (n.d.) Paget’s disease.  https://rarediseases.org/rare-diseases/pagets-disease/ 
Mayo Clinic. (2021, February). Paget’s disease. https://www.mayoclinic.org/diseases-conditions/pagets-disease-of-bone/symptoms-causes/syc-20350811 
Rajani, R. (2018, April). Paget’s disease. OrthoInfo. https://orthoinfo.aaos.org/en/diseases--conditions/pagets-disease-of-bone#:~:text=Paget's%20disease%20of%20bone%20is,shaped%2C%20weak%2C%20and%20brittle.

Medically reviewed by:

Dr Roy Kedem, MD

Dr Roy Kedem started his premedical studies at Harvard, and research in genetics and gene sequencing at Harvard, Beth Israel. He attended medical school in the UK at the Cambridge Overseas Medical Program in 1998.  Dr Kedem then completed his residency in Internal Medicine at Columbia College of Physicians and Surgeons in Stamford, Connecticut and his fellowship in Hospital Medicine at the Cleveland Clinic in Cleveland, Ohio.

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