What is Relapsing Polychondritis?
Relapsing polychondritis (RP) is a less common issue where the body’s immune system mistakenly attacks cartilage. Cartilage is a tough, flexible tissue found mainly in the ears, nose, and windpipe. This condition causes these areas to become inflamed repeatedly. It was first identified in 1923 when a patient, aged 32, had symptoms including fever, ear pain and swelling. Later on, this patient experienced narrowing of the ear’s external passage and a deformity of their nose resembling a saddle. When doctors took a tissue sample of the nose, they couldn’t find any cartilage.
The name ‘relapsing polychondritis’ was first used in 1960 by Pearson and his colleagues. They understood it as an inflammation of structures composed of cartilage and those that are not. This recognition helps in the detection and treatment of this disease.
What Causes Relapsing Polychondritis?
The cause of relapsing polychondritis, a condition that causes inflammation in cartilage and other tissues throughout the body, is unknown. It’s thought that some people may be genetically more likely to get it, and certain triggering events can set it off. These triggers could be an infection, exposure to certain chemicals or toxins, or physical injury. Some people have developed relapsing polychondritis after injuring their outer ear. This could possibly be due to the body’s immune system responding to substances released from the injured tissue. Some genetic studies have found a link between a specific genetic trait, the HLA-DR4 antigen, and relapsing polychondritis.
Risk Factors and Frequency for Relapsing Polychondritis
This disease is rare and tends to affect Caucasians more frequently, with about 4.5 cases per million people. It generally begins to affect individuals between the ages of 40 and 50, but can emerge at any age. The disease affects both genders equally and occurs among all racial groups. It’s important to note that over 30% of people who have this disease also have an autoimmune or blood disorder.
Signs and Symptoms of Relapsing Polychondritis
Relapsing polychondritis is a condition that affects different parts of the body depending on how severe it is and how long a person has had it. The most common symptom, occurring in 90% of cases, is inflammation of the ear. This usually spares the earlobes and leads to ear pain and discoloration. Joint problems are the second most frequent symptom, affecting 50%-75% of patients. Commonly involved joints are those in the wrists and fingers.
Eye problems occur in 20%-60% of patients with relapsing polychondritis. These can include inflammation of different parts of the eye like the episclera, sclera, cornea, and uvea. About 25% of people with this condition will experience inflammation of the cartilage in the nose. There’s also a chance of inflammation occurring in the rings of cartilage around the windpipe and bronchi. When this happens, the airways can collapse, leading to symptoms like coughing, a hoarse voice, and wheezing.
In patients with relapsing polychondritis, breathing problems are the most common cause of death.
- Inflammation of the ear (90% of cases)
- Joint problems (50% – 75% of cases)
- Eye problems (20% – 60% of cases)
- Nose cartilage inflammation (about 25% of cases)
- Airway collapse leading to cough, hoarse voice, and wheezing
Testing for Relapsing Polychondritis
Diagnosis of a condition called relapsing polychondritis is mainly based on several factors including patient symptoms, results from x-ray scans, and biopsies of cartilage (the flexible tissue that protects the ends of your bones). The diagnosis guidelines were put forward by McAdams and others. To diagnose relapsing polychondritis, you need to meet at least three out of six criteria:
1. Repeated inflammation of the cartilage in both ears.
2. A type of arthritis that doesn’t cause the bone to erode.
3. Inflammation of the cartilage in the nose.
4. Inflammation of eye structures, which shows up as conditions like conjunctivitis, keratitis, scleritis, or uveitis.
5. Inflammation of the cartilage in the respiratory tract, especially in the voice box or the windpipe.
6. Damage to the inner ear, which leads to symptoms like hearing loss, ringing in the ears, or feelings of dizziness or spinning.
If your doctor suspects you have relapsing polychondritis, they may order a special type of CT scan to check for disease in your airways. This test can help identify issues like airway collapse or areas where air is getting trapped. Other features on the scan might include thickening of the airway walls and narrowing inside the airway. A lung function test can also be done to check for air trapping and to measure how much air your lungs can hold. A PET-CT is a newer test that’s useful for identifying early disease symptoms and pointing out the best places to take a sample for biopsy.
Taking a sample, or biopsy, from the cartilage in the ear can help confirm whether you have polychondritis. You might also get tested for substances in your blood related to other rheumatologic diseases, like rheumatoid factor and anti-nuclear antibody. Often, patients with relapsing polychondritis will have normal complement levels, which are proteins that help your body get rid of bacteria and damaged cells.
X-ray images might show signs of arthritis related to polychondritis, like near-joint bone thinning and narrowing of the space between joints. Tests for anti-type II collagen antibodies, which can sometimes be related to the disease, aren’t always available. When they are done, not all patients will show these antibodies. Currently, there aren’t any lab tests that can measure ongoing damage to your cartilage.
Treatment Options for Relapsing Polychondritis
There’s currently no specific standardized treatment for this rare disease. This is due to its infrequency and the different ways symptoms present in patients. The chosen treatment options largely depend on the individual patient’s symptoms and how severe the disease is.
For patients who have symptoms affecting their ears, nose, or joints but no signs of the disease elsewhere in the body, the treatment typically involves anti-inflammatory medications, colchicine, or dapsone. Often, a low dose of a corticosteroid (a type of medication that reduces inflammation) is needed as well.
For patients with more severe symptoms such as damage to the large airways in the lungs, sudden sensorineural hearing loss (a type of hearing loss where the root cause lies in the inner ear or the nerve that carries signals to the brain), or eye problems, a stronger treatment plan is usually needed. This typically involves glucocorticoid therapy (high-dose corticosteroids given through a drip into a vein, followed by a course of oral corticosteroids), along with immunosuppressive therapy (medications that reduce the body’s immune response). Commonly used immunosuppressive medications include cyclophosphamide, methotrexate, azathioprine, and cyclosporine. In most cases, cyclophosphamide is used initially, and once the disease is under control, it’s switched to a less toxic immunosuppressive drug like azathioprine or methotrexate.
Biologic drugs, which are made from living organisms, have also been used in treating this disease. Infliximab, an inhibitor of TNF-alpha (a protein produced by the immune system) is the most commonly used biologic. Other biologics like adalimumab, etanercept, abatacept, and tocilizumab have been tried with varying levels of success. Rituximab has not been shown to be successful and is not usually recommended as the first biologic to try.
In cases where the disease has caused the airways to collapse, surgical procedures such as stenting (inserting a tube to keep the airway open), airway dilation (widening the airway), tracheostomy (surgery to create an opening in the neck for a breathing tube), and laryngotracheal reconstruction (surgery to repair the airway) may be required.
What else can Relapsing Polychondritis be?
The process of diagnosing Relapsing Polychondritis (RP) can be difficult. Damage to the nasal area could happen due to:
- Drug abuse, especially cocaine
- Infections caused by fungi, tuberculosis, or syphilis
- Conditions that cause inflammation of the tissues, such as ANCA-associated vasculitis and lymphomatoid granulomatosis
In addition, complications in the eye, similar to those in relapsing polychondritis, could also be seen in the following conditions:
- Rheumatoid arthritis
- ANCA-associated vasculitis
- Polyarteritis nodosa
- Behcet syndrome
- Cogan syndrome
What to expect with Relapsing Polychondritis
Recently, the survival rate of patients with a medical condition called relapsing polychondritis, where the body’s cartilage is attacked by its own immune system, has significantly improved. Previously, the five-year survival rate was 70%, but now it has increased to 91% over the course of ten years.
Usually, people with this condition have a mild version of the disease. Unfortunately, the most prevalent cause of death among these patients is respiratory failure, which is when one’s airways collapse, making it challenging to breathe.
