Overview
Relapsing Polychondritis (RP) is a rare condition where the immune system mistakenly attacks the cartilage in the body, mainly affecting areas like the ears, nose, throat, and heart. The exact reason for its occurrence is not known however, it is related to other autoimmune diseases. RP has also been linked with a specific genetic marker called HLA-DR4 which may increase susceptibility to the disease.1
RP usually shows up when people are in their forties or fifties, and affects both men and women equally. RP can have a wide range of symptoms, which can make it hard for doctors to diagnose it correctly and quickly.2
It's crucial to be aware of RP because it can lead to serious complications especially if it affects your breathing. It is important to keep in mind that the symptoms can come and go unpredictably, making life challenging and even causing issues like disability and hearing loss for those who have it.3
Common symptoms
People with relapsing polychondritis (RP) can have a variety of symptoms due to the inflammation in their cartilage. Some common characteristics include painful and disfigured ears and nose, joint pain as well as eye problems.
Eye issues in RP are frequent, including problems like redness, pain, and inflammation in the eyes. Less common eye symptoms can include issues with the cornea, retina, and even the muscles and tissues around the eyes.4
RP can also affect the airways, often making it hard to breathe because of swelling in the throat. This can be really serious and cause breathing problems.
Joint problems are another issue in RP and can lead to difficulties moving and getting around. There are other possible complications like weakening of the airways and hearing loss.5
The tough part is that RP symptoms can come and go, making it hard to predict what will happen next.
Challenges in diagnosing relapsing polychondritis
Diagnosing relapsing polychondritis (RP) is challenging for a few reasons. First, it's a rare disease, which can show up in different ways, causing confusion and leading to wrong or delayed diagnoses.
Second, in the early stages, many common symptoms of RP may not be there, which can cause a delay in the correct identification of the condition. Some people with RP have experienced symptoms for over 5 years before getting a proper diagnosis, often because the patient didn’t present with the typical ear and nose problems.6
Third, diagnosing RP is mostly based on a doctor's judgement, and they might use lab tests, scans, and sometimes even a small piece of cartilage to confirm it. However, there is no one-size-fits-all method, and RP can be tough to spot, leading to an average delay of almost 3 years from the first examination to the placement of an RP diagnosis.
Lastly, RP can sometimes happen alongside other immune-related diseases like lupus, Sjogren's syndrome, and more. This can make the diagnosis process even more complicated.
Causes and triggers
We're not sure what exactly causes RP, but it seems to involve the immune system because it's related to other autoimmune diseases. There's also a genetic link present, with a marker called HLA-DR4. This genetic marker has been shown to increase the chances of patients presenting with the condition.
Although we're not entirely sure how RP develops, there's some evidence pointing to certain proteins in our body as potential culprits. Antibodies against one of these proteins, Collagen Type II, have been found in some RP patients, suggesting an immune system role. The disease is likely influenced by a specific type of immune response.
But, we still need more research to completely understand how RP works and to come up with better ways to diagnose and treat it. As of now, we don't have solid evidence linking specific environmental factors to the disease, and the course of RP can be unpredictable.7
Diagnostic tests
Diagnosing relapsing polychondritis (RP) relies mainly on clinical observations of its characteristic symptoms. However, doctors can use various tests to support the diagnosis and track the disease's progress.
One of these tests is ultrasonography, which can help assess swelling in the ear and nasal cartilage. When RP is present, the ultrasound typically shows swollen cartilage and surrounding tissue with increased blood flow, matching what's seen in a biopsy.
To further support the diagnosis, doctors may perform a biopsy to confirm cartilage inflammation. This involves examining cartilage under a microscope to look for signs of inflammation.
Imaging techniques like CT scans and MRIs are also useful for assessing the extent of the disease and how it's changing. They can reveal information about the thickness of cartilage in various parts of the body and whether there's inflammation.
Pulmonary function tests, including flow volume loops, can help detect early involvement of the larynx and trachea, while chest CT scans are recommended to monitor the heart and airway involvement.
It's important to remember that RP is typically diagnosed based on physical symptoms and these additional tests, but there's no single definitive test for it.
Treatment options
RP doesn't have a cure, but treatment focuses on relieving symptoms and preventing complications. It often starts with medications like colchicine (used for gout), corticosteroids like prednisone, dapsone (an anti-infective), and nonsteroidal anti-inflammatory drugs (NSAIDs) to reduce inflammation and pain.
In more severe cases, healthcare providers may suggest drugs that lower your immune system's activity, such as cyclophosphamide or azathioprine. These are more potent but can have side effects. Methotrexate, a type of chemotherapy used against arthritis, might also be used.6
For very severe cases, surgery could be necessary. This might involve heart valve surgery, inserting a breathing tube (tracheostomy), or procedures to open the airway using stents or balloons. In some situations, surgery might be needed to reconstruct the trachea or larynx to improve breathing.
Complications and prognosis
Most people with relapsing polychondritis can expect to live a relatively long life. Around 95% of those diagnosed with the condition are still alive eight years later. However, it's important to note that RP can lead to severe problems, especially with breathing. It can also result in permanent hearing or vision loss, which may decrease quality of life.5
When to see a doctor
If you're dealing with relapsing polychondritis, make sure to keep up with your regular appointments with your healthcare providers. If you ever have trouble with breathing, your vision, or hearing, don't hesitate – seek medical help right away. Don't wait for your next scheduled appointment if you're facing urgent issues.
FAQ’s
How long does relapsing polychondritis last?
Relapsing polychondritis is a chronic condition that doesn't go away. However, with treatment, you can often reduce the intensity and frequency of episodes.
What questions can I ask my healthcare provider if I have relapsing polychondritis?
If you've been diagnosed with relapsing polychondritis, consider asking your healthcare provider:
- How severe is my condition?
- What medications do you recommend?
- Should I have tests to check my vision, hearing, airway, heart, or kidneys?
- Should I see any specialists?
- Is there anything I can do to strengthen my cartilage or slow down degeneration?
- Are there any clinical trials for this condition?
Summary
- RP is a rare autoimmune disease that affects cartilage, leading to various symptoms
- Diagnosing RP is challenging due to its rarity and variable symptoms. It relies on clinical judgment and tests
- The cause of RP is unclear, but it's linked to the immune system and a genetic marker (HLA-DR4)
- Treatment focuses on symptom management with medications, including immune system suppressors, and surgery in severe cases.
- RP can result in serious complications, including hearing and vision loss. Seek immediate help for such issues and maintain regular medical appointments
References
- Longo L, Greco A, Rea A, et al. Relapsing polychondritis: A clinical update. Autoimmun Rev 2016; 15: 539–543.
- Cantarini L, Vitale A, Brizi MG, et al. Diagnosis and classification of relapsing polychondritis. J Autoimmun 2014; 48–49: 53–59.
- Lahmer T, Treiber M, von Werder A, et al. Relapsing polychondritis: An autoimmune disease with many faces. Autoimmun Rev 2010; 9: 540–546.
- Fukuda K, Mizobuchi T, Nakajima I, et al. Ocular Involvement in Relapsing Polychondritis. J Clin Med 2021; 10: 4970.
- Yoshida M, Taniguchi Y, Yoshida T, et al. Ultrasonography of auricular cartilage is a potential tool for diagnosing relapsing polychondritis and monitoring disease activity. Int J Rheum Dis 2022; 25: 201–209.
- Thaiss WM, Nikolaou K, Spengler W, et al. Imaging diagnosis in relapsing polychondritis and correlation with clinical and serological data. Skeletal Radiol 2016; 45: 339–346.
- Mathew SD, Battafarano DF, Morris MJ. Relapsing polychondritis in the Department of Defense population and review of the literature. Semin Arthritis Rheum 2012; 42: 70–83.
