Relapsing Polychondritis

This is Dr. Ankoor Shah, and this is a talk on relapsing polychondritis. Overall, the purpose of this talk is to understand and be able to define relapsing polychondritis. We will also review the pathology as well as the methods used to diagnose relapsing polychondritis. Finally, we’ll discuss the limited treatment options for relapsing polychondritis. Here’s the basic outline of this talk. We’ll start with a patient presentation and then go through the various topics listed here, ending with a review of the clinical course and prognosis for these patients. First, let’s start with a patient case. A 50-year-old male presents with recurrent bilateral ear pain associated with redness and swelling. Symptoms have been ongoing for the last two years. Episodes last one to four weeks and can occasionally be associated with dizziness. He also endorses several episodes of eye redness and pain as well as intermittent pain in the center of his chest with deep breaths. Based on these symptoms, you consider a diagnosis of relapsing polychondritis. So what is relapsing polychondritis? It’s a multi-system disease that can ultimately become very severe and even life threatening. Patients have recurring and potentially severe episodes of inflammation of the cartilaginous tissues. We’ll describe what this comprises in more detail. The major tissue cartilage that is affected an RPC is ear, with involvement present in over 80% of cases. On exam, it can appear to have a patchy red-purple appearance of the outer ear similar to the enlargement seen in the picture with the arrow. It generally spares the earlobe, which is the lower fleshy part of the outer ear. After years, the ear can take on what is described as a cauliflower appearance, again, similar to the picture on the slide. There are a number of other organ systems that can be involved in relapsing polychondritis. The tissues of these eyes may become inflamed with manifestations including episcleritis, scleritis, and/or uveitis. Nasal inflammation is also fairly common in this disease. Chronic inflammation and destruction of the cartilage of the bridge of the nose can lead to what is called a saddle nose deformity, which is seen in this picture. There are only a few other conditions that cause saddle noses, which we’ll discuss in a few slides. A serious manifestation that can lead to significant morbidity is inflammation of the airway cartilage. Inflammation in RPC can affect many parts of the airway including the glottis, subglottis, larynx, trachea, and bronchioles. As noted, involvement here can lead to a narrowing or stenosis which can be life threatening. Joints can be involved, most commonly the parasternal joints. Peripheral joints can also be involved. Other organ systems such as the heart, kidneys, GI tract, and nervous system are rarely, if ever, involved. Constitutional symptoms like fever, malaise, and fatigue are common, especially in those with more severe disease. There is little data available describing the epidemiology of relapsing polychondritis. Males and females are affected equally, with the peak onset in the fifth decade, although both children and the elderly have been described in the literature. In terms of race, there is a higher prevalence in Caucasians. Of note, about one-third of patients with relapsing polychondritis have an underlying autoimmune or connective tissue disease. The pathophysiology of relapsing polychondritis is largely unknown, although many have suspected that there may be an autoimmune component. Some studies have described antibodies to Type II collagen, but such auto-antibody testing is not available in practice. Histopathology slides demonstrate replacement of normal perichondrium, where the cells composing the lining around the cartilage are replaced by inflammatory cells. Over time, this area as well as the cartilage itself can be replaced by fibrosis. Other tissues have been examined. The aorta is not cartilaginous but can still be involved, demonstrating lymphocytic infiltration of the vasa vasorum, which provides the blood supply to the outer layers of the large blood vessels. The trachea, classically involved, may have inflammation and edema in the cartilaginous rings. Joints may demonstrate acute and chronic inflammation of the synovium which lines the joint space. Relapsing polychondritis is a clinical diagnosis aided by biopsy of involved tissue. The diagnostic criteria used most widely is a McAdam criteria, which requires three out of the six features listed here to be present. These features include 1. Bilateral chondritis of the ear auricle. 2. Nasal chondritis. 3. Respiratory chondritis. 4. Ocular damage, including episcleritis, scleritis, or uveitis. 5. Polyarthritis that is non-erosive and sero-negative, which means that there are no antibodies associated with known inflammatory arthritis syndromes present. And finally, 6. Damage to the audio vestibular system. Revised criteria have been proposed, which can include one of the above criteria in conjunction with biopsy specimens consistent with histology for RPC or two of the criteria with a response to known treatments for relapsing polychondritis. We will discuss these treatments in greater detail in a few slides. The differential diagnosis for relapsing polychondritis includes atypical infection such as leprosy or tuberculosis, especially in a patient who has been in areas endemic for these diseases. Trauma should always be considered and is the most common cause for a cauliflower ear. Saddle nose deformities, as shown earlier, can occur with another form of vasculitis known as granulomatosis with polyangiitis, an uncommon vasculitis, formally called Wegener’s granulomatosis. Systemic lupus erythematosus, or lupus, can also cause saddle nose deformity. Lymphomas and other cancers that lead to destruction of the nasal tissue can finally also lead to this appearance. With airway or tracheal inflammation, consider trauma or cancer as possible diagnoses. Granulomatosis with polyangiitis may also present with a specific form of airway involvement called subglottic stenosis, also found in relapsing polychondritis. How is relapsing polychondritis treated? First, assess the disease severity, particularly of vital organs. This includes pulmonary function tests along with a CT scan looking for respiratory tract involvement. An echocardiogram can help identify any cardiac and some large vessel involvement. If there is no serious organ damage, glucocorticoids such as prednisone or Dapsone, which is an antibiotic with anti-inflammatory properties, can be used with success. With more severe organ involvement, a higher dose or IV glucocorticoids, cytotoxic chemotherapy agents like cyclophosphamide, or other potent immunosuppressants have been utilized. In terms of prognosis, the clinical course can be very variable. Some patients have a benign course without much disease activity, some will have episodic periods of disease activity. Others experience a constant smouldering disease course. More unfortunate patients will have a fulminant downhill course resulting in death. In addition, there is an increased rate of myelodysplastic syndromes affecting the bone marrow in these patients with relapsing polychondritis, higher than the general population. In summary, relapsing polychondritis, or RPC, is a severe periodic and progressive inflammatory condition that can have a variable course. Most commonly it involves the cartilaginous structures predominantly in the ears, nose, and laryngotracheobronchial tree, although many other organ systems can be involved. Diagnosis is primarily made clinically, although biopsy and imaging can help. Finally, it is treated with steroids or Dapsone mild cases, however, severe cases may require higher dose immunosuppression. Here are some key references for you to read and learn more about relapsing polychondritis.

2 Replies to “Relapsing Polychondritis

  1. I have just one question, in trying to potentially diagnose this for myself… does it itch? Do your flare ups leave you with an itchy rash?

  2. So i was diagnosed with this around the age of 2 i think, im now 15. Throughout my childhood i would have a flare up almost every day and they were painful and one of the worst things that i remember feeling. Now i haven't had a flare up since i was about 9 i believe, which is amazing when i think about it, my ears and nose look perfectly fine and im really thankful for it.

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