Pachydermoperiostosis – Paget’s Disease of Bone

Pachydermoperiostosis is a disease of the bone, usually affecting the skull. This disease can be very serious but can be treated. The key to treating this disorder is to have a proper diagnosis. It’s also important to understand what causes it and what you can do to avoid it.

Diagnosis

Pachydermoperiostosis is a rare hereditary disease, affecting 0.16% of the population. It is the second most common bone disorder after osteoporosis. It has an autosomal dominant inheritance. It is also called primary hypertrophic osteoarthropathy (HPOA). It is caused by an overgrowth of the bones and is associated with an increase in osteoblast activity and bone turnover. Its symptoms include periosteal enlargement, arthritis, and pain.

In addition to periosteal enlargement, the patient may experience painful swelling in the affected bone or joint. A person with Paget’s disease of bone has an increased risk of fractures. In addition, they are at higher risk of blood loss during surgery. Therefore, it is important for patients with Paget’s disease of bone to use a cane or walker, and to avoid falls. Medications can also help to treat the disease. Depending on the extent of the deformities, surgical intervention is necessary. In general, bisphosphonates and zoledronic acid are often used to treat the disease. These medications reduce the activity of the disease and may also be taken orally. They can cause stomach irritation, though.

In some cases, the disease may be detected through conventional radiographs. This is especially useful in rural areas. The doctor can then determine the presence of Paget’s disease by performing a bone scan. This is performed using radioactive material that travels to the area of the bone affected by the disease. In most cases, the disease will not be visible on a bone scan. However, a Tc-99 bone scan can detect vertebral sclerosis, which is a sign of Paget’s disease of bone.

The signs and symptoms of the disease can vary, but they usually present with a periosteal reaction to the long bones. This causes a condition called “Pachydermoperiostosis,” or “hyperhidrosis.” The patient can present with oedema in the lower legs, a spade-like hand, or arthritis. In some instances, a person with Paget’s disease of bone may develop a bone deformity known as ivory vertebrae.

In addition to these symptoms, Paget’s disease of bone can cause high-output cardiac failure. It can be accompanied by a high alkaline phosphatase level in the blood. In addition, it can involve a single bone or several bones. In the case of the spine, the cartilage may be damaged and the cortical bone may be thickened. It can also involve the outer calvarial table.

Although not a symptom of Paget’s disease of bone, the presence of a Pagetic bone near the eighth nerve foramen may be an indication of this disease. When this occurs, the bone can compress the nerve and result in tinnitus, hearing loss, and neuropathy. The presence of this bone can also lead to bone deformities and osteoarthritis. In these cases, it is important to avoid misdiagnosis.

The treatment of Paget’s disease bone is aimed at reducing the activity of the disease. The first line of therapy is bisphosphonates. These medications are effective in preventing bone deformation and minimizing blood loss during surgeries. Anti-resorptive medications, including recombinant osteoprotegerin, denosumab, and zoledronic acid, can also be used.

Treatment

Paget’s disease is a skeletal disorder characterized by an increase in the rate of bone resorption. It can be painful and lead to fractures. The condition can be genetic or acquired. The symptoms vary from no symptoms to painful skeletal deformities. Treatment is designed to reduce the amount of bone resorption and alleviate pain.

There are a number of medications used to treat the condition. Bisphosphonates are commonly prescribed. These drugs work by inhibiting the growth of osteoclasts, which are the cells that break down old bone. The effects of the drugs can last for several years. Alternatively, other drugs are also prescribed. These include pamidronate, zoledronic acid, and etidronate. These are typically administered in oral or infusion form.

Aside from bisphosphonates, surgical therapy may be required. Surgery is usually done under general anaesthesia. It is used to correct a fracture or to relieve compression of vital nerves in the spine. Patients with Paget’s disease have a greater risk of blood loss during the procedure, so it is important to consult a doctor or a specialist who is experienced in this type of surgery. In addition, patients should be careful about over-the-counter pain medications, as they could cause side effects.

Physical therapy is another option. Exercise helps build strong bones. In particular, exercise should be done to build up joint mobility. It can also help prevent weight gain. In addition, regular visits to a doctor are advised to monitor for other problems that might be associated with Paget’s disease.

Elective surgery is sometimes necessary for patients who suffer from severe arthritis. It can be done to correct a hip or knee joint deformity. This is often the most effective method of relieving the pain and other symptoms of Paget’s disease.

In addition to surgical therapy, there are medicines that can be taken to decrease the activity of the disease. These include pamidronate, alendronate, zoledronic acid, etidronate, and risedronate. A patient with Paget’s disease should also take 400 IU of vitamin D daily. This is important because it helps the body absorb calcium, which helps the bones stay healthy.

For mild pain, aspirin can be prescribed. In addition, nonsteroidal anti-inflammatory drugs can be helpful. If a patient experiences too much pain, a transcutaneous electrical nerve stimulation (TENS) machine can be used. A cane or walker is also recommended. The patient should always follow all instructions on the label.

Surgery is generally only performed for severe problems. The most common site for a joint replacement is the hip. If there is a significant amount of pain, total joint arthroplasty can be considered. For some people, a tibial osteotomy may be needed to realign the knee.

There are several causes for Paget’s disease, including hereditary, environmental, and genetic factors. It can also be triggered by malignancy.

Prevention

Pachydermoperiostosis, or PHO for short, is an osteoarthrodermopathic disorder. Unlike typical osteoarthritis, pachydermoperiostosis is characterized by slow, low-velocity growth of the bone. This is not to say that the disorder is untreatable, but if left untreated it may lead to a full-blown fracture. The condition is best managed with a judicious combination of steroids and anti-inflammatories. A plethora of NSAIDs and analgesics are available in the form of tablets and topical creams. The good news is that the diagnosis is usually made early, making the management of the condition a snap. In fact, it is so easy to manage that it can often be treated as a preventive measure. This is particularly the case in the case of women, where pachydermoperiostosis can be a precursor to osteoporosis.

As is the case with any malady, a multi-disciplinary approach to the problem is best. For example, a complete physical examination should be performed to rule out malignancies that may mimic the disease, while a medical history, X-rays, and MRIs are required to rule out underlying medical conditions. While the condition may be refractory to standard treatment, a small number of patients can be cured with a judicious combination of anti-inflammatories and steroids.

Paget’s disease of bone – Symptoms and causes – Mayo Clinic
Paget’s disease of bone – NHS (www.nhs.uk)