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Pigmented Villonodular Synovitis

Disease Details

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Description: Pigmented villonodular synovitis (PVNS) is a rare joint disease characterized by the overgrowth of the joint lining, leading to swelling, pain, and recurrent bleeding into the joint.
Type: Pigmented villonodular synovitis (PVNS) is a type of joint disease characterized by the abnormal growth of the joint lining, leading to swelling, pain, and joint damage. It is generally considered a rare, non-cancerous condition. PVNS is not typically associated with genetic transmission; rather, it is believed to be a sporadic condition without a clear hereditary pattern. The exact cause remains unknown, but some cases may involve abnormalities in chromosome 1, specifically translocations involving the COL6A3 and CSF1 genes.
Signs And Symptoms: Pigmented villonodular synovitis (PVNS) is a joint disease characterized by inflammation and overgrowth of the joint lining (synovium).

**Signs and Symptoms:**
1. **Joint Swelling**: Persistent swelling in the affected joint, often accompanied by warmth and tenderness.
2. **Pain**: Joint pain, which may worsen with activity.
3. **Stiffness**: Reduced range of motion in the joint.
4. **Recurrent Joint Effusions**: Accumulation of excess fluid in the joint, leading to swelling.
5. **Locking or Catching Sensation**: Difficulty moving the joint smoothly, sometimes experiencing a catching or locking feeling during movement.

PVNS typically affects the knee but can also occur in other joints such as the hip, ankle, or shoulder. The condition can be localized or diffuse and often requires imaging techniques like MRI for diagnosis. Treatment options may include surgical removal of the affected synovium, radiation, or, in some cases, medications.
Prognosis: Pigmented villonodular synovitis (PVNS) is a rare, benign but potentially aggressive joint disorder characterized by the proliferation of the synovium, leading to joint swelling, pain, and potential joint destruction. The prognosis for PVNS varies:

- **Localized PVNS**: Generally has a better prognosis. Surgical removal of the affected synovium often results in good outcomes with a lower rate of recurrence.
- **Diffuse PVNS**: More likely to recur even after surgical intervention and may require multiple surgeries or adjunct therapies such as radiation. Persistent disease can lead to joint damage and potential functional impairment over time.

Overall, early diagnosis and appropriate treatment are key to improving outcomes and preserving joint function.
Onset: Pigmented villonodular synovitis (PVNS) typically affects adults between the ages of 20 and 50. The exact cause is unknown, but it involves abnormal growth of the joint lining, leading to pain and swelling. Early symptoms may be mild, gradually progressing over time.
Prevalence: The exact prevalence of pigmented villonodular synovitis (PVNS) is not well-established due to its rarity, but it is estimated to occur in 1.8 cases per million individuals per year.
Epidemiology: A study conducted in the Netherlands estimated that the worldwide incidence of TGCT is 43 cases per million person-years. The majority – 39 cases per million person-years – were estimated to be localized TGCT; the remaining 4 cases per million person-years were estimated to be diffuse TGCT. TGCT can occur in patients of any age, but people with localized TGCT are typically between 30 and 50 years old,: 100–101 while diffuse TGCT tends to affect people under the age of 40.: 102–103
Intractability: Pigmented villonodular synovitis (PVNS) is not necessarily intractable but can be challenging to manage due to its potential for recurrence and joint damage. Treatment options often include surgery, such as synovectomy, to remove the affected tissue. Radiation therapy and pharmacological treatments may also be considered. Regular follow-ups are important to monitor for recurrence.
Disease Severity: Pigmented villonodular synovitis (PVNS) is a relatively rare condition characterized by the growth of a benign tumor in the synovial tissue of joints, bursae, or tendon sheaths. Disease severity can vary:

1. **Localized PVNS**: Typically affects a targeted area within the joint, usually presenting as a nodule. Symptoms include joint pain, swelling, and stiffness, but it is generally less aggressive.

2. **Diffuse PVNS**: Affects the entire synovial lining of a joint, leading to more extensive swelling, pain, and potential joint damage over time. This form is more aggressive and may require more intensive treatment, such as surgery.

PVNS is not life-threatening but can significantly impair joint function and quality of life if not managed effectively.
Healthcare Professionals: Disease Ontology ID - DOID:2702
Pathophysiology: Pigmented villonodular synovitis (PVNS) is characterized by the proliferation of synovial membrane cells, leading to the formation of nodules and villi in the joint lining. This abnormal growth is often accompanied by hemosiderin deposition, resulting from repeated bleeding within the joint, giving the affected tissue a characteristic brownish pigmentation. The etiology is not completely understood, but it may involve both inflammatory processes and neoplastic transformations. PVNS predominantly affects large joints, especially the knee, and can lead to joint pain, swelling, and reduced mobility if untreated.
Carrier Status: Pigmented villonodular synovitis (PVNS) is a joint disease characterized by inflammation and overgrowth of the joint lining, leading to pain and swelling. It is not associated with carrier status as it is not a hereditary condition, but rather a rare, benign proliferative disorder of the synovium. The exact cause of PVNS remains unclear, but it is thought to involve genetic mutations and local overproduction of growth factors.
Mechanism: TGCT tumors grow due to genetic overexpression of colony stimulating factor 1. This causes colony-stimulating factor-1 receptor (CSF1R) cells to accumulate in the joint tissue.
Treatment: Patients affected by TGCT should be managed within expert centers or reference networks, by a dedicated, experienced sarcoma multidisciplinary treatment team, including a pathologist, radiologist, orthopaedic surgeon, pain specialist, surgical, radiation and medical oncologists. Patients initially treated at cancer centers have lower recurrence rates than those initially treated by community centers.Surgery has been the most common form of treatment for both localized: 101 : 361 and diffuse TGCT.: 103 : 361 : 1 After surgery, patients may receive physical therapy in order to help rehabilitate affected joints. However, recurrence of TGCT after surgery is common, with a higher rate of recurrence for diffuse TGCT than for localized TGCT.: 361 In cases of recurrent or resistant disease, multiple surgeries, total joint arthroplasties, or amputation may be required.: 1 A multidisciplinary approach, supplementing surgery or other treatments, can also improve outcomes in cases of recurrent TGCT. In the late 2010s, treatment with CSF1R inhibitors emerged as an option that may help improve functionality for patients with recurrent TGCT or TGCT that is not easily managed by surgery.: 361 An oral CSF-1R inhibitor pexidartinib is approved in the US and only available through a Risk Evaluation and Mitigation Strategy (REMS) Program, and two other oral CSF-1R inhibitors, pimicotinib and vimseltinib are being developed in phase 3 trials.There is insufficient and contradictory evidence on radiation therapy, in the form of radiosynoviorthesis (yttrium injections) or external beam, before or after surgery and thus no recommendation for its use in TGCT can be made. For asymptomatic patients, active surveillance is the preferred method. Active surveillance includes monitoring with MRI in intervals (e.g., every 6 months) to ensure the delay in treatment does not pose a potential harm. This should be carefully weighed against the potential for over treatment.
Compassionate Use Treatment: Pigmented villonodular synovitis (PVNS) is a rare, benign but locally aggressive pathology, primarily affecting the joint synovium. Experimental or off-label treatments, though not standard, may include targeted therapies or systemic medications designed to inhibit specific pathways implicated in PVNS.

1. **Imatinib (Gleevec)**: An off-label treatment targeting the PDGF receptor, it has shown some efficacy in reducing tumor size in PVNS due to its inhibitory action on cell proliferation.

2. **Pexidartinib (Turalio)**: An agent that inhibits the colony-stimulating factor-1 receptor (CSF1R), specifically approved for tenosynovial giant cell tumor (TGCT), including PVNS. It's tailored for patients with severe disease not amenable to surgery.

3. **Nilotinib (Tasigna)**: Another tyrosine kinase inhibitor, used off-label, similar to imatinib, that inhibits certain growth factor receptors playing a role in PVNS.

4. **Radiotherapy**: For cases that are not surgically resectable, radiotherapy might be an option to control local disease progression, albeit with variable success rates and potential long-term side effects.

5. **Orthobiologic Injections**: Some experimental approaches may include the use of intra-articular injections of orthobiologic agents or newer formulations like monoclonal antibodies targeting specific molecular pathways involved in PVNS pathogenesis.

Clinical trials and consultation with specialists in musculoskeletal oncology or rheumatoid surgery are essential to explore and consider these options.
Lifestyle Recommendations: Pigmented villonodular synovitis (PVNS) is a joint disease that typically affects the synovium, leading to swelling, pain, and limited motion. While specific lifestyle changes alone cannot cure PVNS, certain adjustments can help manage symptoms and improve overall joint health:

1. **Exercise**: Engage in low-impact activities like swimming, cycling, or walking. These exercises can help maintain joint mobility and strength without putting excessive stress on the affected joint.
2. **Physical Therapy**: Work with a physical therapist to develop a personalized exercise regimen that focuses on improving joint functionality and reducing symptoms.
3. **Healthy Diet**: Maintain a balanced diet rich in anti-inflammatory foods, such as fruits, vegetables, lean proteins, and omega-3 fatty acids, to support overall joint health.
4. **Weight Management**: Achieve and maintain a healthy weight to reduce the load on weight-bearing joints, thus alleviating some strain and pain.
5. **Medication Compliance**: Adhere to any prescribed medications, such as nonsteroidal anti-inflammatory drugs (NSAIDs), to manage pain and inflammation.
6. **Stress Management**: Practice stress-relief techniques, like mindfulness, meditation, or yoga, to help manage chronic pain and improve emotional well-being.

Consult your healthcare provider before making any significant lifestyle changes to ensure they align with your treatment plan.
Medication: The primary treatment for pigmented villonodular synovitis (PVNS) usually involves surgery to remove the abnormal synovial tissue. In some cases, adjuvant therapies such as radiation may be considered. Medication is generally not the mainstay of treatment, but nonsteroidal anti-inflammatory drugs (NSAIDs) or corticosteroids might be used to manage symptoms like pain and inflammation. There are also some newer targeted therapies being studied, such as tyrosine kinase inhibitors, but they are not yet standard practice. Always consult with a healthcare professional for the most appropriate treatment plan.
Repurposable Drugs: Pigmented villonodular synovitis (PVNS) is a rare, benign proliferative disorder affecting the synovium of joints, typically the knee or hip. Repurposable drugs for PVNS include:

1. **Imatinib** - Originally used for chronic myeloid leukemia, imatinib has shown efficacy in targeting the PDGF (platelet-derived growth factor) receptor expressed in PVNS lesions.
2. **Nilotinib** - Similar to imatinib, nilotinib is another tyrosine kinase inhibitor that has been repurposed for PVNS treatment due to its action on PDGF receptors.
3. **Pexidartinib (Turalio)** - While not traditionally repurposed, it is worth mentioning as an FDA-approved drug specifically for PVNS that targets the CSF1 receptor.

It is important to consult with a healthcare provider for the most current treatment options and appropriateness of these drugs.
Metabolites: Pigmented villonodular synovitis (PVNS) does not have well-defined specific metabolites associated with its diagnosis or progression. PVNS is a rare, benign proliferative disorder affecting the synovial membranes of joints, bursae, and tendon sheaths. The condition is characterized primarily through clinical evaluation, imaging techniques like MRI, and histological analysis rather than specific metabolic or biochemical markers.
Nutraceuticals: There is no established evidence supporting the use of nutraceuticals for treating pigmented villonodular synovitis (PVNS). Treatment typically involves surgical intervention to remove the affected synovium, and in some cases, radiation therapy is used to reduce recurrence. Consultation with a healthcare provider is recommended for appropriate management.
Peptides: Pigmented villonodular synovitis (PVNS) is a joint disease characterized by inflammation and overgrowth of the joint lining, leading to pain, swelling, and reduced mobility. It typically affects the knee or hip. Treatment often involves surgical removal of the affected tissue. The mention of "peptides" and "nan" in the context of PVNS is unclear, as these terms don't directly relate to standard diagnostic or treatment practices for PVNS. If you have more specific questions or need information on other aspects, feel free to clarify.