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Osteodystrophia deformans: Paget's disease of the bones
In the chronic disease of the bone metabolism Paget's disease (Osteodystrophia deformans) there is an abnormally increased bone remodeling, which leads to thickened, deformed and brittle bones. Many sufferers remain symptom-free for a long time, but boring bone pain and other complaints and serious sequelae can also occur. A diagnosis is often made relatively late, which can affect the success of the treatment. In addition to painkillers, therapy for Paget's disease primarily includes the administration of newer bisphosphonates to inhibit bone resorption.
Important note: The term Paget's disease is used synonymously for two different clinical pictures. One is a disease of the female mammary gland (Paget's carcinoma), the other is a bone disease, which is also called osteodystrophia deformans or ostitis deformans. The following article only covers bone disease.
A brief overview
In addition to the comprehensive information below on Paget's disease, the following brief overview summarizes the most important facts of this relatively rarely diagnosed disease:
- definition: Osteodystrophia deformans is a chronic disease of the skeletal system, which causes an impaired bone metabolism. A pathologically increased bone remodeling leads to a gradual thickening and deformation of affected bones, which are also less resilient and less stable.
- Symptoms: The disease is symptom-free in the long term in about 90 percent of the patients. If symptoms start to become noticeable, the first symptoms are local and deep bone pain and possibly other pain and discomfort. The deformities can become visible and the pathological processes can sometimes be felt through the skin in the form of heat.
- causes: The causes have not yet been clarified. Hereditary components in connection with an unknown virus infection are discussed as triggers.
- diagnosis: It is not uncommon for a diagnosis to be possible late or not at all. If the suspicion of Paget's disease already exists, an X-ray examination, a bone scintigraphy and a blood examination are primarily used for the further diagnosis.
- treatment: To alleviate symptoms and inhibit bone remodeling, drug therapies with bisphosphonates and calcitonins are primarily used. Painkillers or, in serious cases, surgical interventions may also be considered. As a rule, the treatment is supplemented with the intake of vitamin D and calcium as well as with physiotherapy.
The term Osteodystrophia deformans (also Osteitis deformans) means "deforming the bones", which roughly describes the clinical picture. The synonymously used terms Paget's disease, Paget's disease or Paget's syndrome refer to the first descriptive surgeon and pathologist named James Paget from England, where the disease actually occurs most frequently. The first descriptor referred to an increasing hat size as the first sign in the 19th century.
Nowadays Paget's disease is defined as a chronic skeletal system disorder that causes a disordered bone metabolism and occurs in one or more areas. The pathological changes result in an unorganized bone remodeling and a gradual thickening and deformation of the affected bones. In addition, there is less resilience and stability of the changed bone structure.
The disease usually only occurs in older people, especially after the age of 40 or 55. Most cases of illness are found in Northern Europe (especially England and with the exception of Scandinavia). In Asia and Africa, on the other hand, the occurrence of osteodystrophia deformans is very rare. Overall, men are affected more often than women. In general, the disease is one of the rare osteopathies (abnormal bone changes). However, a high number of unreported cases is suspected.
Symptoms and possible sequelae
A long-term symptom-free course of the disease can be observed in about 90 percent of Paget's disease sufferers. In the remaining ten percent, the complaints develop in a gradually progressing process.
The first main symptoms are local bone pain, which is often experienced as deep pain. Sometimes the initially inflammatory processes and pathologically increased metabolic processes through the skin can be felt in the form of heat (overheating). Bones such as the pelvis, leg bones, spine, upper arm bones and sometimes also the jaw bones are mostly affected. But the disease also manifests itself frequently on the skull bone.
The changed and unstable bone structure often leads to (visible) deformities, painful bone damage and possibly also broken bones. As a further consequence, arthrosis can develop, which leads to joint pain. The improper strain that may be associated with the deformities can also cause muscle pain that is caused by muscle cramps or muscle hardening.
If the distension of the bones leads to excessive pressure on the nerves, their functions can also be impaired in severe cases. Secondary complaints can include sciatic pain, back pain and lower back pain, for example in the area of the spine. If the skull is affected, various factors, such as sound sensation disorders or sound line disorders, can even cause hearing loss (hypacusis).
A rare (less than one percent) complication is the development of a malignant tumor (bone cancer). These few cases are mostly secondary osteosarcomas. Cardiac overload due to increased blood flow is also very rare.
In about ten to fifteen percent of those affected, the increased calcium requirement for increased bone formation leads to the development of secondary hyperparathyroidism (parathyroid hyperfunction) and hypocalcaemia (calcium deficiency) or hypercalcaemia (calcium excess). If hyperparathyroidism is present, parathyroid hormone (parathyroid hormone) is increasingly produced to regulate the calcium level in the blood.
The origin of the disease is still unknown. So far, experts have been able to identify several genetic mutations that are related to the development and activity of so-called osteoclasts. The often large and multinucleated osteoclasts cause resorption of bone tissue and show increased activity in those suffering from Paget's disease. The capacity of the osteoclasts can be a multiple of the so-called osteoblasts, which in turn are responsible for the formation of bone tissue.
Furthermore, close examination of the affected bones suggests a viral infection. Thus, it is believed that with a certain genetic predisposition, an unknown virus triggers the abnormal osteoclast activity, which in turn causes the specific bone damage. Evidence for this theory has not yet been provided.
If deformed limbs are noticed (usually asymmetrically), suspicion of osteodystrophia deformans arises relatively quickly. However, since in many patient cases there are no symptoms for a long time or they become visible and a characteristic clinical picture is missing, it often does not occur at all or only at a late stage or a conjecture and diagnosis of Paget's disease.
In order to diagnose a suspected Paget's disease, X-rays are usually first taken. This imaging procedure enables a relatively early detection of bone loss (osteolysis). Findings such as deformations or thickening of the affected bones or osteoporosis can also be created using the X-ray images. Bone scintigraphy is another imaging method from nuclear medical diagnostics, which can also be used to visualize increased bone remodeling.
A blood test is usually carried out in order to confirm the diagnosis, in which certain enzymes (alkaline phosphatases) are determined in the serum. The majority of those suffering from Paget's disease who are not yet in therapy have elevated values for these enzymes. In addition, other markers may indicate increased bone resorption, such as the so-called C-terminal telopeptide (CTX) in the serum or released amino acids (hydroxyproline) in the urine.
A bone biopsy can be considered in doubtful cases or in the case of a complicated course of the disease with suspected osteosarcoma. In addition, further examination techniques such as computer tomography and magnetic resonance imaging can be indicated for certain complications.
For a long time, the disease was not treatable or could only be treated to a limited extent. Nowadays, individually coordinated and, above all, early therapies are considered to have a relatively high success rate in order to delay the progression of the disease. Existing deficits are often irreversible.
The aim of any treatment is to relieve pain and symptoms and, if possible, to reduce bone loss and prevent impending complications. The respective individual characteristics determine the priorities of a therapy concept. Most of the time, the first goal is to reduce bone deformities when mechanically stressed bones are affected (for example, the pelvis or legs). On the other hand, if the spine or skull is affected, a first goal can be to prevent possible nerve damage.
As a rule, drug therapy is used in the treatment, especially using bisphosphonates and calcitonins. These drugs are said to inhibit osteoclast activity and the resulting bone resorption. The first choice usually falls on a bisphosphonate, such as etidronate, pamidronate or zolendronate. If there is an intolerance or resistance to a bisphosphonate, synthetic salmon calcitonin is often used. The newer bisphosphonates (e.g. zolendronate) are usually more effective and longer effective.
In any case, it is important to take the medication on time and on a regular basis. Some bisphosphonates can also be administered intravenously for long-term effects (up to a year). As with the diagnosis, a follow-up check of this therapy is usually carried out with the help of a blood test. The activity of the osteoclasts in the course of the disease can be estimated by determining the alkaline phosphatases.
In the case of existing pain, pain-relieving and anti-inflammatory drugs such as non-steroidal anti-inflammatory drugs or similar drugs are usually used.
In addition, targeted physiotherapy can help many of those affected to counteract any incorrect loads that arise and to maintain general mobility. For further symptom relief, other treatments, such as an oil massage or electrotherapy, are also used, especially for older people.
However, the physical impairment can also be so severe that the possibility of surgery is considered. Possible surgical procedures are osteotomy, in which bones are cut and newly fixed, or a bone or joint replacement using endoprostheses.
Due to the increased calcium requirement for accelerated bone remodeling and the possibly resulting calcium deficiency, those affected are often advised to take calcium and vitamin D supplements. Vitamin D (or the prohormone cholecalciferol) affects calcium metabolism and strengthens the bones.
From the field of naturopathy, homeopathy offers a variety of effective remedies for various bone diseases. In connection with Paget's disease and the symptom of deep bone pain, Aurum metallicum may be used. This homeopathic remedy is made from felled gold. In every application, well-founded medical and homeopathic advice should be obtained in advance. Self-treatment is not recommended. (tf, cs)
Author and source information
This text corresponds to the requirements of the medical literature, medical guidelines and current studies and has been checked by medical doctors.
Dr. rer. nat. Corinna Schultheis
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ICD codes for this disease: M88ICD codes are internationally valid encodings for medical diagnoses. You can find e.g. in doctor's letters or on disability certificates.