Paget's disease - causes, symptoms and therapy

Osteodystrophia deformans: Paget's disease of bones

In the chronic disease of the bone metabolism of Paget's disease (osteodystrophia deformans), there is a pathologically increased bone remodeling that leads to thickened, deformed and brittle bones. Many sufferers remain symptom-free for a long time, but they can also have piercing bone pain and other discomfort and serious sequelae. Often, a diagnosis is made relatively late, which can affect the success of treatment. In addition to analgesic drugs, the treatment of Paget's disease primarily involves 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 female mammary gland disease (Paget's carcinoma) and the other is a bone disorder also referred to as osteodystrophia deformans or ostitis deformans. The following article covers only the bone disease.

contents

• Osteodystrophia deformans: Paget's disease of bones
• A short overview
• definition
• Symptoms and possible sequelae
• causes
• diagnosis
• treatment
• Naturopathic treatment

A short overview

In addition to the comprehensive information on the bone disease, Paget's disease, below, the following brief summary summarizes the key facts of this relatively rarely diagnosed disease:

• definition: Osteodystrophia deformans is a chronic disease of the skeletal system that causes a disturbed bone metabolism. A pathologically increased bone remodeling leads to a gradual thickening and deformation of affected bones, which also have a lower resilience and stability.
• symptoms: The disease is symptom-free in about 90 percent of sufferers in the long term. When symptoms start to appear, the first symptoms are local and deep bone pain and possibly other pain and discomfort. The deformations can be seen and the pathological processes are partially felt in the form of heat through the skin.
• causes: The causes are still unclear. Hereditary components in connection with an unknown viral infection are discussed as triggers.
• diagnosis: A diagnosis is often not until late or not at all possible. If there is already a presumption of Paget's disease, primarily an X-ray examination, a bone scintigraphy and a blood test are used to further diagnose the condition.
• treatment: For symptom relief and inhibition of bone remodeling, especially drug therapies with bisphosphonates and calcitonins are used. In addition, painkillers or, in severe 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 chronic skeletal disease Paget's disease can lead to gradual bone deformities. (Image: ylivdesign / fotolia.com)

definition

The term Osteodystrophia deformans (also Osteitis deformans) means "deformation of the bones", which already roughly outlines the clinical picture. The synonymously used terms Paget's disease, Paget's disease or Paget's syndrome refer to the first describing surgeon and pathologist named James Paget from England, where the disease actually occurs most frequently. The first describer referred to an increasing hat size as the first indication in the 19th century.

Nowadays, Paget's disease is defined as a chronic disease of the skeletal system that involves a disturbed bone metabolism and occurs in one or more areas. The pathological changes require an unorganized bone remodeling and a gradual thickening and deformation of the affected bones. In addition, it comes to a lower resilience and stability of the altered bone structure.

The disease usually only occurs in the elderly, especially after the 40th or after the 55th year of life. Most cases are found in northern Europe (especially England and Scandinavia). In Asia and Africa, on the other hand, osteodystrophia deformans is very rare. Overall, men are more frequently affected than women. In general, the disease is one of the rarely occurring osteopathies (abnormal bone changes). However, a high number of unreported cases is suspected.

Symptoms and possible sequelae

In about 90 percent of patients with Paget's disease, a long-term, symptom-free course of the disease can be observed. For the remaining ten percent, the symptoms develop in a gradual process.

The first major symptoms are local bone pain, which is often experienced as profound pain. Sometimes the initially inflammatory processes and pathologically increased metabolic processes through the skin in the form of heat are noticeable (overheating). Mostly affected are heavily affected bones such as the pelvis, the leg bones, the spine, the humerus and sometimes also the jawbones. But also on the skull bone, the disease manifests itself frequently.

The disturbed metabolic processes in Osteodystrophia deformans cause a bone remodeling, which - similar to osteoporosis - less resilient and unstable bones result. (Image: crevis / fotolia.com)

The altered and unstable bone structure not infrequently leads to (visible) deformations, painful bone damage and possibly also to bone fractures. As a further consequence, arthrosis can develop, leading to joint pain. In addition, the potential stress associated with deformities can cause muscle pain caused by muscle cramps or muscle hardening.

If the distension of the bones causes excessive pressure on nerves, their functions can be impaired in severe cases. Secondary complaints may include sciatica, back pain and low back pain, for example in the spine area. In case of an attack of the skull, various factors, such as sound sensory disturbances or sound disturbances, even a hearing loss (hypacusis) cause.

A rare (less than one percent) complication is the development of a malignant tumor (bone cancer). These few cases are usually a secondary osteosarcoma. Also very rarely there are heart overloads due to increased blood flow.

In about ten to fifteen percent of sufferers, the increased calcium requirement for increased bone formation results in secondary hyperparathyroidism (hyperparathyroidism) and hypocalcaemia (calcium deficiency) and hypercalcaemia (excess calcium). In the presence of hyperparathyroidism, the parathyroid hormone (parathyroid hormone) is increasingly formed to regulate the level of calcium in the blood.

When symptoms start to appear, these are initially often profound local bone pain. (Image: sebra / fotolia.com)

causes

The onset of the disease is still unclear. So far, subject matter experts have succeeded in identifying several genetic mutations associated with the development and activity of so-called osteoclasts. The often large and polynuclear osteoclasts cause resorption of bone tissue and show increased activity in patients with 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 could not yet be provided.

diagnosis

If already deformed limbs are found (usually asymmetric), the suspicion of osteodystrophia deformans is relatively soon. However, since in many cases no complaints or long-term symptoms occur and a characteristic clinical picture is missing, it often does not come at all or only late or to a presumption and a diagnosis of Paget's disease.

In order to diagnose a suspected Paget's disease, radiographs are usually taken first. This imaging method allows a relatively early detection of bone loss (osteolysis). Also findings such as deformations or thickening of the affected bones or osteoporosis can be created by means of X-ray images. Bone scintigraphy is another imaging technique used in nuclear medicine diagnostics, which also makes it possible to visualize increased bone remodeling.

If there is suspicion of Paget's disease of the bones, X-ray images are used for the diagnosis. (Image: Hanna / fotolia.com)

In most cases, a blood test is carried out for the further confirmation of diagnosis in which certain enzymes (alkaline phosphatases) in the serum are determined. In the majority of patients with Paget's disease who are not yet on therapy, increased levels of these enzymes are found. In addition, other markers may indicate increased bone resorption, such as the so-called C-terminal telopeptide (CTX) in serum or released amino acids (hydroxyproline) in urine.

A bone biopsy can be considered in doubtful cases or in a complicated disease course with suspected osteosarcoma. In addition, further investigation techniques such as computed tomography and magnetic resonance imaging may be indicated for certain complications.

treatment

For a long time, the disease was considered not or only partially treatable. Nowadays, personalized and, above all, early-onset therapies are credited with a relatively high success rate to delay the progression of the disease. However, existing deficits are often irreversible.

The goal of any treatment is to relieve pain and symptoms and, if possible, reduce bone loss and prevent potential complications. The respective individual characteristics determine the priorities of a therapy concept. For example, the primary goal is to reduce bone deformation when mechanically stressed bones are affected (for example, the pelvis or the legs). On the other hand, if the spine or skull is affected, the first goal may be to prevent possible nerve damage.

In the treatment usually a drug therapy is used, especially using bisphosphonates and calcitonins. These drugs are designed to inhibit osteoclast activity and the resulting bone resorption. The first choice is usually a bisphosphonate, such as etidronate, pamidronate or zolendronate. If there is intolerance or resistance to a bisphosphonate, synthetic salmon calcitonin is often used. The newer bisphosphonates (eg, zolendronate) are usually more effective and last longer.

Drug therapy to inhibit bone loss is supplemented with the administration of calcium and vitamin D. (Image: Maryna Olyak / fotolia.com)

In any case, timely and regular medication is important. Some bisphosphonates may also be administered intravenously for long-term effects (up to one year). A follow-up of this therapy is usually carried out, as in the diagnosis, with the help of a blood test. By determining the alkaline phosphatases, the activity of osteoclasts in the course of the disease can be estimated.

In the case of existing pain, analgesic and anti-inflammatory drugs such as non-steroidal anti-inflammatory drugs or similar drugs are usually used.

Many affected people can supplement a specific physiotherapy to help counteract resulting stress and maintain overall mobility. For other symptom relief, other treatments, such as an oil massage or electrotherapy, especially in older people affected.

However, the physical impairments can be so strong that the possibility of surgery is considered. Possible surgical procedures are osteotomy, in which bones are severed and newly fixed, or a bone or joint replacement by endoprostheses.

Due to the increased calcium requirement for the accelerated bone remodeling and the possibly resulting calcium deficiency, those affected are often advised to supplementally take calcium and vitamin D. Vitamin D (or the prohormone cholecalciferol) acts on the calcium metabolism and strengthens the bones.

In case of bone diseases and associated complaints, oil massages can be pain-relieving and relaxing. (Image: Racle Fotodesign / fotolia.com)

Naturopathic treatment

From the field of natural medicine, homeopathy offers a variety of effective agents for various bone diseases. In association with Paget's disease and the symptom of deep bone pain, Aurum metallicum may be used. This homeopathic remedy is made from precipitated gold. In each case, a well-founded medical and homeopathic advice should be obtained in advance. Self-treatment is not recommended. (tf, cs; updated on 22/11/2018)