Hypertrophic Osteoarthropathy
Hypertrophic osteoarthropathy is a painful disease affecting the joints of the body. It’s caused by a buildup of calcium in the joints. This can lead to joint pain, stiffness, and swelling. It’s often difficult to treat, but there are options.
Primary hypertrophic
osteoarthropathy
Hypertrophic osteoarthropathy (HOA) is a rare, multi-organ disease that can cause pain, swelling, and a periosteal reaction of long bones. Patients can have both primary and secondary forms of the condition. It is most commonly associated with lung cancer, but can also be caused by other chronic diseases. There is no known cure for the disease, but treatments may help manage the symptoms.
A genetic disease, PHO is characterized by an inherited, autosomal recessive trait. It can affect people of any race, gender, and age. The most common form of the disease occurs in adults. The syndrome is characterized by the formation of a symmetrical periosteal reaction of the long bones. The lesions are typically limited to the diaphysis and epiphysis of the long bones, though some cases may include tubular bones. The underlying cause of the disease is a mutation in the SLCO2A1 or HPGD gene. Identifying the gene mutation can provide a clinical diagnosis.
The pathogenic gene, SLCO2A1, encodes a protein that is responsible for the transport and degradation of prostaglandins. A mutation in this gene leads to an inactivation of the transporter and an inability to degrade prostaglandins. When the gene is present, the patient has an increased risk of developing HO. The mutation causes the patient to have an increased amount of prostaglandin E2 in the bloodstream. The accumulation of prostaglandins is considered to be a crucial factor in the pathogenesis of PHO.
The symptoms of primary hypertrophic osteoarthritis can be painful but are usually mild. Affected patients may have painful soft tissue swelling over the affected bone, digital clubbing, and other similar signs and symptoms. It can be painful to perform certain activities, like bending over or walking on uneven surfaces. There are treatments available to alleviate the symptoms of hypertrophic osteoarthritis. These treatments can include surgery, medications, and antimicrobial therapy. Some treatments can be helpful, but the effectiveness of these treatments can vary.
Other conditions that can lead to hypertrophic osteoarthritis are congenital heart defects, pulmonary fibrosis, and biliary atresia. A person with a disease that causes these symptoms should be referred to a doctor for further testing and treatment.
The earliest description of hypertrophic osteoarthritis was reported in the 1920s by Friedreich. The disease was first described by Friedreich as pachydermoperiostosis. This type of osteoarthritis can present in adolescence or later in life. It can be accompanied by patent ductus arteriosis, sebaceous hyperplasia, and effusions. The most common type of disease is seen in children and adults. The resulting periosteal growth is dense and lumpy. In many cases, the new bone is thicker in the mid-diaphysis, thereby sparing the epiphyses. The resulting lesion is sometimes referred to as a “candle wax” morphology.
While there is no specific cure for HO, a combination of antimicrobial therapy, medication, and surgery can treat some of its symptoms. Some studies have shown that intravenous bisphosphonate can be effective in modulating the symptoms of HO. However, results will depend on the treatment and the underlying cause of the HO.
Diagnosis
Hypertrophic osteoarthropathy (HOA) is a disorder that affects primarily the joints and long bones of the body. It is characterized by an abnormal proliferation of skin and joints, including arthritis and joint effusion. The primary and secondary forms of HOA can be distinguished based on a triad of symptoms.
A physical examination can help a physician diagnose hypertrophic osteoarthropathy. The symptoms are generally accompanied by pain and swelling of the bones. A physical exam may reveal clubbing of the digits, which is commonly referred to as digital clubbing. Other signs include increased oedema of the fingers, a thickened nail, and a shiny base.
An early diagnosis of HOA helps to reduce the symptom burden for patients. However, the diagnosis of this condition can often be overlooked in those with bone pain. This can be especially problematic in females, as the disease has a tendency to be milder in the female population. Luckily, there are a variety of treatment options available to patients.
A young patient with severe chronic pain was initially referred to the Neurology Clinic. After an initial physical examination, a series of examinations were performed to establish the diagnosis. In all three cases, a radiological study of the long bones confirmed the presence of HOA. In one of the cases, a synovial fluid analysis was conducted.
The patient was also treated with pamidronate, an anti-inflammatory drug, intravenously over one hour. A chest computed tomography showed a patent foramen ovale (2 mm) and periosteal reaction. In addition, a small pedunculated polyp was found in the sigmoid colon. Lastly, angiography was ordered to evaluate the possibility of neurogenic aetiology. The results of these studies confirmed the diagnosis of Pierre Marie-Bamberger syndrome, a paraneoplastic syndrome.
The most common underlying cause of hypertrophic osteoarthropathy is lung cancer. Most people who develop this condition are males. The most common symptoms of this condition are pain in the bones, joint effusion, and a periosteal reaction. In addition, the condition can be associated with various types of tumours. The most common type of cancer that leads to this disorder is non-small cell lung cancer. Other types of malignancy include breast, ovarian, and prostate cancer.
Hypertrophic osteoarthropathy is a rare condition. It is caused by genetic changes at birth. The pathogenesis is not fully understood. However, research suggests that this syndrome is caused by a combination of factors such as a pulmonary disorder, a paraneoplastic disorder, and a vascular disease.
Hypertrophic osteoarthropathy can be a slow and progressive occurrence, which is exacerbated by the onset of other diseases. The prognosis is good in those with a manageable underlying condition, but the prognosis is poor in those with a malignancy. For these reasons, coordination among interprofessional teams is crucial for better care of patients with hypertrophic osteoarthropathy.
Treatment
Hypertrophic osteoarthropathy (HOA) is an inflammatory bone disorder characterized by a dense, lumpy, clubbing surface of the bone, which is most prominent in long bones. The condition is usually asymptomatic, but patients may complain of pain in the affected joint and its adjacent bone. HOA can occur as a primary inherited disease, or as a secondary manifestation of a malignancy, pulmonary tuberculosis, or another disorder. There are various treatment options for this type of arthritis.
If diagnosed early, it is possible to avoid long-term pain, and if the disease is caused by a primary disorder, the patient can be treated effectively. However, the patient needs to be educated about the importance of investigational studies in order to make an accurate diagnosis and improve treatment compliance.
In general, the symptoms associated with hypertrophic osteoarthropathy can be relieved by nonsteroidal anti-inflammatory drugs. This type of osteoarthritis is also treatable with bisphosphonates, which have been shown to relieve painful symptoms. These agents are very potent osteoclastic bone resorptions.
However, patients with primary hypertrophic osteoarthropathy need to be screened for other potential complications, such as bronchiectasis and lung abscesses. These complications are very uncommon. In cases where the underlying cause of the pain is unresolved, surgery can be used to correct the underlying problem. Some of the treatments for this disease include thoracotomy, vagotomy, and intravenous bisphosphonate therapy.
For patients with primary aetiology, the aim of the treatment is to suppress or reverse the disease. The underlying cause can be treated either with surgical removal of the underlying tumour, or by antimicrobial therapy. In patients with metastatic aetiology, the goal is to control the progression of the disease. Surgical treatment is not always required, but it is often helpful for symptom management.
Several clinical tests are used to diagnose hypertrophic osteoarthropathy. Some of the tests include physical examination, x-rays, and imaging studies. If the cause of the symptoms is a malignancy, a biopsy can be performed to determine whether the disease is secondary to a primary pathology. In many cases, hypertrophic osteoarthropathy is present as a complication of other conditions, such as psoriatic arthritis or rheumatoid arthritis. The disease can be misdiagnosed as rheumatoid arthritis, psoriatic arthritis, or psoriasis.
Secondary hypertrophic osteoarthropathy can be diagnosed by physical examination and radiographic images. The main symptoms of this disease are a pain in the joints and rounded tips of the fingers. In addition to the rounded tips of the fingers, the patient’s hands may appear thickened. The primary goal of secondary hypertrophic osteoarthropathy treatment is to control the underlying malignancy.
In the case of rheumatic paraneoplastic syndromes, the symptoms can be mistaken for osteoarthritis. These diseases are associated with humoral factors released from deranged cells. These factors are thought to play a role in the development of HOA.