Paget’s disease is a disorder of the skeleton also known as osteodystrophia deformans. In Paget’s disease, bone metabolism is disturbed, resulting in thickening of the bones as a consequence. Paget’s disease sufferers have a high susceptibility to bone fractures and deformities.
What is Paget’s disease?
Paget’s disease is also known as osteodystrophia deformans and is a disease of the bony musculoskeletal system. Due to a hyperactive bone metabolism, a thickening of the bones occurs over time. In particular, the spine, the pelvic bones as well as the bones of the lower and upper extremities are affected. Osteodystrophia deformans usually occurs after the age of 40. Since Paget’s disease often progresses without symptoms, it is either not discovered at all or only by chance, for example when X-rays are taken due to other complaints. The bones do not consist of solid, static structures, but are constantly being remodeled. Two different cell types in particular are involved here, the osteoclasts and the osteoblasts. The osteoblasts serve to build up bone substance, while the osteoclasts break it down. Normally, buildup and breakdown are in equilibrium; in Paget’s disease, however, this process occurs in an uncoordinated manner.
Causes
The causes of Paget’s disease are largely unknown. A genetic defect is thought to be responsible for the abnormal bone metabolism. There is also current debate about whether infection with a certain type of virus may be a trigger, but no definite results have been presented to date.
Symptoms, complaints, and signs
In 90 percent of all people with the disease, there are no symptoms or complaints. In these cases, a diagnosis is usually not made at all. Ten percent of people with Paget’s disease, however, present with a variety of problems. Cracks and fractures in the bones often lead to severe bone pain. This can lead to malpositions and incorrect stresses, which in turn cause pain in the joints and muscles. The pain is often described as diffuse, pulling pain in the affected areas and occurs primarily at night. In the course of the disease, deformations occur in the bones, which are also visible from the outside. Typical symptoms include a shortening of the tibia, a curvature of the spine, or an enlargement of the head circumference. Another possible symptom of Paget’s disease is overheating of the affected body parts. Due to increased blood flow, new blood vessels develop, which can dilate and become inflamed due to high local blood pressure. Compression of nerve tissue can lead to hearing loss, blindness or pain, and even functional impairment of the central nervous system. In rare cases, malignant tumors can develop, especially on the bones in the pelvis, thighs and upper arms. The first signs of this are a marked worsening of existing symptoms and increasing deformation of the affected bones.
Diagnosis and progression
Because Paget’s disease does not always show symptoms, it is difficult to diagnose. It is usually detected as an incidental finding during another examination. If Paget’s disease is suspected, the following tests are performed. A blood test is used to determine the enzyme alkaline phosphatase (AP), because the AP indicates the activity of the osteoblasts. The osteoclasts are determined by means of a urine sample. Here, the value of the amino acid hydroxyproline is determined. Furthermore, imaging techniques such as X-ray, CT, and MRI are used to determine which bones of the skeleton are affected. Bone scintigraphy is particularly useful in identifying areas of increased bone remodeling. The course of Paget’s disease depends on the stage of the disease and how severe it is. Since Paget’s disease does not always show symptoms, it is possible that it remains undetected and the affected person leads a completely normal life. In other cases, bone remodeling occurs very rapidly, so that secondary diseases can result. Depending on which area is affected, movement restrictions and pain may occur.Thickening of the spine can squeeze the exiting nerve tracts, so that sensory disturbances as well as paralysis can occur. If Paget’s disease affects the skull, it can lead to hearing loss and blindness over time. In addition to kidney disease and heart failure, Paget’s disease can develop into a bone tumor in rare cases.
Complications
As a result of Paget’s disease, patients suffer from severe bone pain. Tension also occurs, which significantly reduces the quality of life of the affected person. In most cases, sufferers also suffer from cramps in the muscles and can thereby no longer perform ordinary activities or sports activities without further ado. Furthermore, the shins of the affected persons are also significantly shortened and the patients suffer from warm extremities. As the disease progresses, Paget’s disease also leads to hearing loss. Especially in children and young people, hearing loss can lead to severe psychological symptoms or depression. As a rule, Paget’s disease is not treated until late, since it is diagnosed late and only by chance. Furthermore, this disease leads to disturbances in sensitivity and not infrequently to paralysis in various parts of the body. Those affected can also go blind. A causal treatment of Paget’s disease is usually not possible. Only the symptoms can be limited and reduced in some cases. However, a completely positive course of the disease does not occur. The life expectancy of the affected person is not influenced or reduced by the disease.
When should one go to the doctor?
Most affected individuals do not notice any symptoms of the associated bone thickening. Visits to the doctor are therefore usually missed. In fact, this bone disease is almost as common as osteoporosis. The onset of the disease is around the age of forty. Most sufferers never see a doctor because of the lack of symptoms. Only very rarely is treatment needed for Paget’s disease. Paget’s disease is manifested by symptoms such as bone pain in only about ten percent of those affected. The other consequences of this bone disease usually go unnoticed. However, if symptoms such as an increasing head circumference or so-called saber shins appear, a doctor should be consulted. Here, there is a risk of joint damage and muscle strain. In addition, new blood vessels form in the affected area. This can lead to overheating. Painful nerve compression or the formation of osteosarcomas may occur. The person to contact for such complaints is a specialist in internal medicine. Family physicians often do not recognize what triggers the symptoms. In most cases, Mobus Paget is discovered by chance during a routine examination or by an MRI scan for other complaints.
Treatment and therapy
Because no exact cause is known for Paget’s disease, only symptomatic treatment can be given. This consists of drug therapy and physiotherapeutic measures. Drug therapy includes analgesic and anti-inflammatory drugs. Furthermore, Paget’s disease is treated with so-called bisphosphonates and the hormone calcitonin. Bisphosphonates and calcitonin have an inhibitory effect on osteoclasts, which are responsible for bone resorption. Calcium and vitamin D are also administered, which are necessary for healthy bone formation. In particularly severe cases, surgical intervention may also be necessary. In particular, if the hip is damaged, it may be replaced with an artificial joint replacement.
Outlook and prognosis
The prognosis generally varies for Paget’s disease. It depends greatly on the severity of the disease. In about one-third of affected individuals, only a few and limited areas of bone are affected, so they have no symptoms. In contrast, less favorable courses (in about two-thirds of those affected) are associated with larger affected areas. The slowly progressive course of the disease eventually leads to physical limitations. However, even with minor or even more pronounced physical limitations, life expectancy in Paget’s disease is generally not reduced. In addition, the risk of bone cancer is increased in Paget’s disease.For example, in about one percent of those affected, the bone cells degenerate and a so-called Paget’s sarcoma or osteosarcoma develops. This requires early treatment and surgical removal. For this reason, people affected by Paget’s disease are checked by doctors at regular intervals. Doctors check the concentration of a certain enzyme in the blood – alkaline phosphatase (AP) – about three months after the start of treatment and then at six-month intervals. An elevated AP concentration is considered a possible indicator of a bone tumor or bone metastases.
Prevention
Because the cause of Paget’s disease is unknown, no preventive measures can be taken. One should attend annual health and screening examinations as a general prophylactic measure. In this way, Paget’s disease can be detected early and thus treated adequately.
What you can do yourself
Individuals suffering from Paget’s disease require medical treatment in any case. This consists of drug therapy and surgical interventions. The use of drugs can be supported by various natural remedies. For example, anti-inflammatory remedies such as arnica or belladonna have proven effective. A change in diet ensures that the body receives sufficient vitamin D and calcium, which is essential for healthy bone formation. In many cases, Paget’s disease must be treated surgically. After such an operation, the patient must initially take it easy. After a few weeks, sports may slowly be resumed, provided that the injury has healed sufficiently. If the patient has received an artificial joint replacement as part of the operation, physiotherapeutic measures are recommended. In addition to the physiotherapy prescribed by a doctor, which usually lasts several weeks to months, the patient can perform movement exercises at home to improve handling of the new joint. Despite everything, the causative disease continues to cause damage in other parts of the body. That is why the patient must consult a doctor regularly so that any bone changes can be detected at an early stage. Drug therapy must be regularly adjusted to the constitution of the sufferer and the particular symptoms of the disease.