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What
is Paget's disease of bone?
Paget's
disease is a chronic disorder that typically results in enlarged and deformed
bones. The excessive breakdown and formation of bone tissue that occurs with
Paget's disease can cause bone to weaken, resulting in bone pain, arthritis,
deformities, and fractures. Paget's disease may be caused by a "slow
virus" infection, present for many years before symptoms appear. There is
also a hereditary factor since the disease may appear in more than one family
member.
Who
is Affected?
Paget's disease is rarely
diagnosed in people under 40 years of age. Men and women are affected equally.
Prevalence of Paget's disease ranges from 1.5 to 8 percent depending on age and
country of residence. Prevalence of familial Paget's disease (where more than
one family member has the disease) ranges from 10 to 40 percent in different
parts of the world. Because early diagnosis and treatment is important, after
age 40, siblings and children of someone with Paget's disease may wish to have
an alkaline phosphatase blood test every 2 or 3 years. If the alkaline
phosphatase level is above normal, other tests such as a bone-specific alkaline
phosphatase test, bone scan, or x-ray can be performed.
Symptoms
Many patients do not know they
have Paget's disease because they have a mild case of the disease with no
symptoms. Sometimes, symptoms may be confused with those of arthritis or other
disorders. In other cases, the diagnosis is made only after complications have
developed. Symptoms can include:
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Bone
pain -- the most
common symptom. Bone pain can occur in any bone affected by
Paget's disease. It often localizes to areas adjacent to the
joints. |
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Headaches
and hearing loss --
may occur when Paget's disease affects the skull. |
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Pressure
on nerves -- may
occur when Paget's disease affects the skull or spine.
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Increased
head size, bowing of limb, or curvature of spine
-- may occur in advanced cases.
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Hip
pain -- may occur
when Paget's disease affects the pelvis or thighbone.
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Damage
to cartilage of joints
-- may lead to arthritis.
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Diagnosis
Paget's disease may be diagnosed
using one or more of the following tests:
X-rays -- Pagetic bone has a characteristic appearance on x-rays.
Alkaline
phosphatase blood test
-- An elevated level of alkaline phosphatase in the blood can be suggestive of
Paget's disease.
Bone
scans -- Useful in
determining the extent and activity of the condition. If a bone scan suggests
Paget's disease, the affected bone(s) should be x-rayed to confirm the
diagnosis.
Prognosis
The outlook is generally good, particularly if treatment is given before major
changes in the affected bones have occurred. Any bone or bones can be affected,
but Paget's disease occurs most frequently in the spine, skull, pelvis, thighs,
and lower legs. In general, symptoms progress slowly, and the disease does not
spread to normal bones. Treatment can control Paget's disease and lessen
symptoms but is not a cure. Osteogenic sarcoma, a form of bone cancer, is an
extremely rare complication that occurs in less than one percent of all
patients.
Other
Medical Conditions
Paget's disease may lead to other medical conditions, including:
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Arthritis
-- Long bones in the leg may bow, distorting alignment and increasing
pressure on nearby joints. In addition, Pagetic bone may enlarge, causing
joint surfaces to undergo excessive wear and tear. In these cases, pain may
be due to a combination of Paget's disease and osteoarthritis.
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Hearing
-- Loss of hearing in one or both ears may occur when Paget's disease
affects the skull and the bone that surrounds the inner ear. Treating the
Paget's disease may slow or stop hearing loss. Hearing aids may also help. |
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Heart
disease -- In severe
Paget's disease, the heart works harder to pump blood to affected bones.
This usually does not result in heart failure except in some people who also
have hardening of the arteries.
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Kidney
stones -- Kidney
stones are somewhat more common in patients with Paget's disease.
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Nervous
system -- Pagetic
bone can cause pressure on the brain, spinal cord, or nerves, and reduced
blood flow to the brain and spinal cord.
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Sarcoma
-- Rarely, Paget's disease is associated with the development of a malignant
tumor of bone. When there is a sudden onset or worsening of pain, sarcoma
should be considered.
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Teeth -- When Paget's disease affects the facial bones, the teeth may become
loose. Disturbance in chewing may occur.
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Vision--Rarely, when the skull is involved, the nerves to the eye may be
affected, causing some loss of vision.
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Paget's
disease is not associated with the following disorder:
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Osteoporosis
-- Although Paget's disease and osteoporosis can occur in the same patient,
they are completely different disorders. Despite their marked differences,
many treatments for Paget's disease can also be used to treat osteoporosis.
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Treatment
Types of physicians
The following types of medical
specialists are generally knowledgeable about treating Paget's disease.
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Endocrinologists
-- Internists who specialize in hormonal and metabolic disorders.
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Rheumatologists
-- Internists who specialize in joint and muscle disorders.
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Specialists
-- Orthopedic surgeons, neurologists, and otolaryngologists (physicians who
specialize in ear, nose, and throat disorders) may be called upon to
evaluate specialized symptoms.
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Drug
therapy
The goal of treatment is to control Paget's disease activity for as long a
period of time as possible. The U.S. Food and Drug Administration (FDA) has
approved the following treatments for Paget's disease.
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Bisphosphonates.
Five bisphosphonates are currently available. As a rule, bisphosphonate
tablets should be taken with 6-8 oz of tap water on an empty stomach. None
of these drugs should be used by people with severe kidney disease.
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Didronel®
(etidronate disodium) -- Tablet; approved regimen is 200-400 mg once daily
for 6 months; the higher dose (400 mg) is more commonly used; no food,
beverages, or medications for 2 hours before and after taking; course should
not exceed 6 months, but repeat courses can be given after rest periods,
preferably of 3-6 months duration.
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Aredia®
(pamidronate disodium) -- Intravenous; approved regimen 30 mg infusion over
4 hours on 3 consecutive days; more commonly used regimen 60 mg over 2-4
hours for 2 or more consecutive or non-consecutive days.
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Fosamax®
(alendronate sodium) -- Tablet; 40 mg once daily for 6 months; patients
should wait at least 30 minutes after taking before eating any food,
drinking anything other than tap water, taking any medication, or lying down
(patient may sit).
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Skelid®
(tiludronate disodium) -- Tablet; 400 mg (two 200 mg tablets) once daily for
3 months; may be taken any time of day, as long as there is a period of 2
hours before and after resuming food, beverages, and medications.
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Actonel®
(risedronate sodium) -- Tablet; 30 mg once daily for 2 months; patients
should wait at least 30 minutes after taking before eating any food,
drinking anything other than tap water, taking any medication, or lying down
(patient may sit).
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Calcitonin
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Miacalcin®
is administered by injection; 50 to 100 units daily or 3 times per week for
6-18 months.
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Surgery
Medical therapy prior to surgery helps to decrease bleeding and other
complications. Patients who are having surgery should discuss pre-treatment with
their physician. There are generally three major complications of Paget's
disease for which surgery may be recommended.
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Fractures
-- Surgery may allow fractures to heal in better position.
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Severe
degenerative arthritis
-- If disability is severe and medication and physical therapy are no longer
helpful, joint replacement of the hips and knees may be considered.
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Bone
deformity -- Cutting
and realignment of Pagetic bone (osteotomy) may help painful weight-bearing
joints, especially the knees.
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Complications
resulting from enlargement of the skull or spine may injure the nervous
system. However, most neurologic symptoms, even those that are moderately
severe, can be treated with medication and do not require neurosurgery.
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Diet
and Exercise
In general, patients with Paget's
disease should receive 1000-1500 mg of calcium, adequate sunshine, and at least
400 units of vitamin D daily. This is especially important in patients being
treated with bisphosphonates. Patients with a history of kidney stones should
discuss calcium and vitamin D intake with their physician.
Exercise
is very important in maintaining skeletal health, avoiding weight gain, and
maintaining joint mobility. Since undue stress on affected bones should be
avoided, patients should discuss any exercise program with their physician
before beginning.
For
more information about Paget's disease, contact:
The
Paget Foundation for Paget's Disease of Bone and Related Disorders
120 Wall Street, Suite 1602, New York, NY 10005-4001
Toll-free: 800-23-PAGET
Phone: 212-509-5335
Fax: 212-509-8492
E-Mail: PagetFdn@aol.com
Internet: www.paget.org
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