Professor Kazem Fathie, M.D., F.A.C.S., F.I.C.S., Ph.D.

Chairman,
American Academy of Neurological and Orthopaedic Surgeons

History of Paget's Disease.. Paget's Disease was recognized by Sir James Paget approximately 100 years ago. Initially it was a rather mysterious disease, which caused a variety of deformaties as well as fractures.
What is Paget's Disease? Paget's disease is a disease of the bones. It is a chronic disorder and typically produces deformities and enlargement of the bones due to the excessive bone breakdown and also bone formation. It creates density of the bone and makes the bone rather fragile and tender. Clinically, this disease can create severe pain, followed by deformities and sometimes fractures. Almost every bone of the body can be involved. The major part of the involvement concentrates and localizes on the long bones; tibia (shin bone), femur (the thigh bone) and pelvic bone, skull and spinal column. When the skull is involved, the patient may experience difficulties with vision and the nerves of the eyes are affected. Also, when the neural canal bones of hearing are involved, the tightness of the canal will also create nerve deafness and a loss of hearing results. This can involve both sides and both ears or can involve only one. It is said that Beethoven, the great musician, had Paget's disease which involved his skull and also his neural canal of hearing and he became deaf. While the skull is showing the involvement of Paget's disease, the effect of that can also be observed on the facial bones and disturbances of the chewing mechanism may occur when the disease affects the teeth in the upper and lower jaws.
What Causes Paget's Disease? A possible slow virus infection of the bone way be the cause. Also, other factors such as hereditary appears strong since Paget's disease has been seen in different members of a family. The hereditary factor may lead to susceptibility among family members. Isolation of this slow virus and exact nature has not been totally understood or explained. Research is still being done on this subject. In regard to Paget's being in families, it is suggested that after the age of 40, it may be advisable for the siblings and children of a person with Paget's disease to have a standard blood test checking for alkaline phosphatase (an enzyne produced by bone cells) done every two or three years. If the blood levels of this chemical are high, further tests such as bone scanning and other tests in regard to the urine need to be initiated.
Who Gets Paget's Disease? Paget's disease is most common among Caucasian and also people of European descent. Since Paget's disease has been identified, 750,000 patients have been recognized in France, 700,000 in the United Kingdom, 800,000 in Germany, and 50,000 in Scandinavia. In the United States, there are 2 million patients with Paget's Disease. The highest incidence of the disorder has been annotated in England (in the area of Lancashire). It has also been seen in African-Americans, Asian-Americans and even seen in people under 40 years of age. It is said that about 3 percent of the American population over 60 years of age have Paget's disease, whether they are diagnosed or not. Sometimes people with Paget's disease are not aware that they do have it unless it becomes painful. Most of the time this pain can be confused with plain arthritis or other disorders.
How is the Diagnosis of Paget's Disease Made? The proper way to establish a Paget's diagnosis is by x-rays, bone scanning, testing the blood for alkaline phosphatase. Only when elevation of the alkaline phosphatase is observed can we start making a diagnosis. As we have recognized the diagnosis of Paget's disease being first by the elevation of alkaline phosphatase, we should also emphasize that the alkaline phosphatase is a chemical enzyme produced by bone cells and is over produced by Pagetic bone. Therefore, the blood level of alkaline phosphatase is a reflection of the extent of the disease and it's degree of activity. Repeated measurement of alkaline phosphatase from time to time can be used to determine if the condition is stable or not. It is especially helpful in finding and recognizing the patient's response to the treatment with a variety of anti-Pagetic medication.
Why Individuals with Paget's Disease Experience Pain? Below are the four reasons as to why individuals with Paget Disease may experience pain: 1) Pain may arise from compression of neural tissue (nerves). By compressing a nerve, pain is perceived in the brain.
2) Pain may arise from joint involvement. If a joint is involved in the disease, pain can be experienced. This is because of the many nerve endings which supply the joint.
3) Bone pain may come from impaired joint movement. This leads to loss of articular cartilage.
4) Pain may arise from involvement of the shaft of long bones or skull.
How Pain from Paget's Disease is Differentiated from Arthritic Pain? and What is the Relationship between Arthritis and Paget's Disease? Pain from Paget's Disease can be mistaken for arthritis. It is true that Paget's disease can cause arthritis by changing the long bones around the joints, such as the thigh and leg. Ankylosis, bowing, shortening and malalignment can all be true in the case of Paget's disease, as well as arthritis but Pagetic bone way become rather enlarged and cause the joint surface to undergo excessive wear and tear. Arthritis is common among Paget's disease patients and many of the patients with Paget's disease complain of back pain, leg pain, knee pain and spinal arthritis. Differentiation of osteoarthritis, rheumatoid arthritis and Paget's disease should be carefully evaluated by the physician.
What is the Relationship of Osteoprosis and Paget's Disease? Also, osteoporosis is a condition of generalized loss of the bone mass, which can lead to fractures, as well as Paget's disease which can do the same. In the same individual, you can see osteoporosis as well as Paget's disease combined. Treatment of Paget's disease can also cure, or at least stop the growth of the osteoporosis. Therefore, these two diseases can be very much connected and related.
What are the Symptoms of Paget's Disease? The answer to this question is that pain may occur in any bone affected by the Paget's disease and pain is the number one symptom. It is often localized in adjacent joints. Pain can start prior to deformities and can be of many different forms. There can be headaches, radicular pain, muscular pain, skeletal pain or osteoarthritic pain. Hip pain may occur when the pelvis and thigh bone are involved. Other frequent symptoms are the deformities of the bones such as increase in head size, bowing of the limb, or curvature of the spine has been seen in advanced cases. These deformities are usually due to enlargement and softening of the affected bone. Hearing loss and visual problems can also be experienced. Damage to the cartilage of joints adjacent to the affected bone may lead to arthritis. Pagetic bone is susceptible to fracture with moderate stress. Paget's disease is rarely a fatal disease. This is becasue less than 1% of all Paget's Disease cases, the Pagetic bone is transformed into osteogenic sarcoma (malignant bone tumor). Another question that needs to be answered is the connection between Paget's and heart disease. Mainly it has been emphasized that this usually does not occur due to the fact that the blood produces more bone, the circulation becomes more rapid and the heart works harder. Enlargement of ventricles of the heart can be seen. The majority of heart disease is due to arteriosclerosis, hardening of the arteries and the arteries of the heart can be more susceptible in the Paget's patient than a normal patient. There has been no known connection of the Paget's disease with diabetes mellitus. Nevertheless, the recommendation comes that both medications such as Insulin and Calcitonin should not be mixed together. Paget's disease can create kidney dysfunction and kidney stones are somewhat more common and has been seen. Other complications which may follow Paget's disease is in the nervous system such as compression of the spine. In case the Paget's hits the spine, compression of the neural canal of hearing occurs and loss of hearing may result. In case the Paget's Disease involves the skull, the pathologic optic canal can create pressure on the optic nerve (nerves of the eye) and visual problems may arise. Regarding the question whether sarcoma (a malignant bone tumor) is related to Paget's disease, it has been mentioned that this a rare occurance. When there is a sudden onset of severe pain, multiple pathological fractures, or motion abnormalities and worsening of the condition of the patient, sarcoma should be suspected and be treated. It is not not known that sarcoma was the cause of the main Paget's Disease. The question as to whether Paget's disease has relationship with Calcium intake and vitamin D intake has not been clear. Nevertheless, the elevation of the Calcium levels in the blood and decrease of Calcium intake has not been shown to be related to the development or treatment of the Paget's disease. In the, patient who has kidney dysfunction or kidney stones, it is proper that the physician be notified of the course of the disease and the intake of Calcium or vitamin D. Exercise is recommended as a treatment for Paget's disease to prevent further evidence of ankylosis but the exercise should not to be to the degree of creating a fracture.
What is the Outlook for an Individual affected with Paget's Disease? Prognosis of the patient with Paget's disease varies greatly from the patient being completely stable to a patient who has gone into rapid progression. The symptoms in general progress slowly in affected bones but there is usually no spread to previously normal bones. The outlook is generally good; if treatment is started early, the condition can be well controlled, and the pain is lessened. How is Paget's Disease Treated? Treatment of Paget's disease consists of treatment by an expert endocrinologist, a physician who recognizes hormonal and metabolism disorders. Consultation with a neurosurgeon-, neurologist, orthopedic surgeon and otolarangologists at times are advisable. These physicians treat the patient with two types of medications which are FDA approved. They are Calcitonin, which is a synthetic salmon calcitonin (Calcimar, Miacalcin, or Osteocalcin) and sometimes synthetic human calcitonin which is referred to as Cibacalcin. This medication is always given by injection, although recently the medication has been advised by inhalation, as well as other newly investigated methods. The second medication is Bisphosphonates and is a new class of drugs known as bisphosphonates, which inhibits abnormal bone cell activity. Among this group Etidronate disadium, which is Didronel, is given to the patient by tablet. It is recommended to be taken on an empty stomach and at least 30 minutes before eating. No other medication or antacid should be given for two hours before or after this medication. Treatment with this medication should not exceed more than six months but repeat courses have been done. There is a group of medications called Pamidronate disodium or Aredia. This can be given intravenously. it has recently been approved by the FDA. It can have prolonged effects after a short course of treatment. Other types of medication sometimes used for treatment of Paget's disease are Plicamycin (Mithracin) and gallium nitrate (Ganite). They are intravenous drugs approved for the treatment of high blood calcium levels in cancer patients. They have both been used in research studies for Paget's disease but are not specifically approved by the FDA for the treatment of Paget's disease. Correction of Paget's deformities by surgery is not usually recommended. Nevertheless, when pressure on the nerves is involved, a neurosurgical approach by decompression of the cochlear nerve (the nerve involved in hearing) or optic nerve (the nerve involved in vision) intracranially has been approached. Treatment of Pagetic bone fracture by fixation or surgery also may need to be done as the case develops. Total joint replacement of the hips and knees should be reserved for the most severe cases of 'arthritis and Paget's disease when other methods of treatment fail. The procedure of osteotomy for surgical cutting and realignment of Pagetic bone and deformity may help weight bearing joints, especially the knee. Medical therapy prior to the surgery should be carried out to decrease the bleeding and other complications which usually follows on the Pagetic patient. It should be emphasized that the Paget's Disease Foundation can provide the patient and doctor with further information for educational purposes of professional assistance in education or public education. Their research is also available at several different centers in the world. A new medication, namely Fosamax, has been approved by the FDA for the treatment of Paget's disease of the bone in October of 1995 and is recommended to be given 40 mg. once daily for 6 months. Fosamax must be taken at least one-half hour before the first food or beverage. Waiting longer than 30 minutes will usually improve the absorption of Fosamax. Waiting less than 30 minutes or taking Fosamax with food, beverage, or other medication will lessen the effect of the Fosamax. It is recommended to be taken with a full glass of water and the patient should also avoid lying down for at least 30 minutes thereafter.