Paget's disease of bone

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at August 4, 2016
StartPaget's disease of bone

Paget's disease of the bone is a very serious medical condition that affects the health of the bones. People with Paget's disease have misshapen bones that have grown too large and are very weak. It is an uncommon disease that is seen most often in elderly patients. Symptoms range from mild to severe and although symptoms can be managed, there is no known cure. 

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Definition & Facts

Paget's is a chronic disease that most often presents in the elderly population, and it is very rarely seen in patients under 40 years of age. Paget's disease is characterized by rapid deterioration of bone tissue. The new bone that replaces this tissue is bulky, loose, and enlarged.

Symptoms are often seen in the skull, spine, and pelvis although other areas of the body can be impacted by this disease. It is important to be aware of the symptoms so that prompt medical attention can be provided to a patient. Early diagnosis has a positive impact on the outcome of treatment.

Symptoms & Complaints

Symptoms of Paget's disease of the bone may not appear for a long time so many patients may not know they have this disease immediately. When individuals do experience symptoms, they are most often present in some area of the bones and joints.

Sometimes, a fractured bone is the first symptom that indicates Paget's disease is present. Some symptoms and complaints related to Paget's disease include:

Causes

Generally speaking, Paget's disease is caused by a serious malfunction in bone formation. The exact cause of this disease is not known by doctors although risk factors and genetic factors have been identified.

Paget's disease can be caused by a virus that is present in the body for many years before any symptoms of Paget's disease appear. There are several viral infections associated with Paget's disease such as respiratory syncytial virus, measles, and canine distemper virus.

Heredity also plays an important role in the development of Paget's disease because there are two very specific genes associated with the presentation of this disease, SQSTM1 and RANK. There are also two particular regions of chromosome five and chromosome ten associated with Paget's.

Recent research indicates that environmental factors such as air pollution contribute to the development of Paget's disease of the bone. 

Diagnosis & Tests

Several methods of assessment are available that help confirm or rule out a suspected Paget's diagnosis. Diagnosis is usually made through physical examination, X-rays, and lab tests. Paget's generally causes some sort of arthritic condition so it is usually a rheumatologist that makes the diagnosis. It can also be diagnosed by other medical professionals that specialize in the diagnosis and treatment of bone disorders.

Generally, a physician will conduct a thorough physical examination after reviewing the patient's medical history and a discussion with the patient about their symptoms. The doctor may also order X-rays of a patient's bones, which can lead to a diagnosis of Paget's disease.

A doctor can also order blood tests and non-invasive bone scans to help make the appropriate diagnosis. If the physician suspects cancer may be present in the bone, an invasive procedure called a bone biopsy may be required so the physician can examine the bone under a high-powered microscope.

Treatment & Therapy

This disease is usually treated by an internal medicine physician who is an expert in various hormonal disorders and metabolic disorders. It is important to seek treatment for this disease as soon as it is possible in order to achieve the best outcome from treatment. For most people with Paget's disease, treatment is highly effective. Once diagnosed, the physician will review treatment options with the patient. 

Depending on the severity of the disease, there are three main treatment options for Paget's disease: physical assistance, medication, and surgery. Physical assistance focuses on providing physical assistance to patients that experience bothersome symptoms of Paget's disease of bone. Treatment is focused on physical therapy and the addition of various mobility aids such as canes or shoe inserts.

Several medications may be helpful in reducing pain associated with Paget's disease as well as managing other symptoms of the condition. Pain medications such as acetaminophen or nonsteroidal anti-inflammatory drugs (NSAIDs) are often the first choice for pain management.

A doctor may also prescribe bisphosphonates. This is a type of medication that can be used to prevent the loss of bone mass. Calcitonin is another medication that can be used to treat Paget's disease. This medication works to regulate calcium levels and assist in the bone building process. Most oral medications should be taken in the morning with a full glass of water and some medications must be taken with a meal.

When it is medically necessary, surgery is used to treat Paget's disease of bone. Surgery is an appropriate option to reduce pain and improve function when the patient has bone fractures, severe degenerative arthritis, or any sort of severe bone deformity. Surgical procedures that are commonly used include arthroplasty which involves replacing or reconstructing joints via a joint replacement. Osteotomy may also be performed and involves removal of bones, which may be necessary if the bone is deformed in cases of Paget's disease of bone.

Prevention & Prophylaxis

Unfortunately, there are no current American Medical Association guidelines for the prevention of Paget's disease. However, individuals that have family members with Paget's disease of bone should be proactive about their health. After age 40, a blood test for Paget's every two to three years is recommended for those with a family history of the disease.

Adequate amounts of vitamin D and calcium consumed as part of a healthy diet can help promote healthy bone mass. Regular exercise can also promote joint and bone health.