Relapsing polychondritis (RP) is characterized by recurrent swelling and inflammation of cartilage and other tissues throughout the body. Cartilage is a tough but flexible tissue that covers the ends of bones at a joint and gives shape and support to other parts of the body. Symptoms of RP include swelling of the cartilage of the ear, nose, and joints. Other parts of the body that may be involved are the airways (trachea), costal (rib) cartilage, eyes, heart, vascular (veins) system, skin, kidney, and nervous system. The signs and symptoms vary from person to person depending on which parts of the body are affected. The exact underlying cause of RP is unknown. There are thought to be genetic and other unknown factors involved. RP often occurs along with autoimmune conditions. Diagnosis is based on the symptoms and clinical examination. Other more common conditions may need to be excluded before RP can be diagnosed. The primary goals of treatment for people with RP are to relieve present symptoms and to preserve the structure of the affected cartilage.

It has been estimated that between 3-4 people per one million develop relapsing polychondritis every year. Females are more likely to develop RP than males. The exact number of people with this condition is unknown.

The following list includes the most common signs and symptoms in people with relapsing polychondritis (RP). These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition

The features of the condition and the severity of symptoms vary significantly from person to person, but may include:

• Pain and swelling of the ear
• Damage to the outer part of the ear
• Swelling of the inner ear
• Dizziness, hearing loss, and/or nausea
• Joint pain
• Swelling of the voice box (larynx)
• Narrowing and blockage of the trachea (tracheal stenosis)
• Coughing, wheezing, or hoarseness
• Swelling of the outer parts of the eye (episcleritis, uveitis and/or scleritis).
• Nasal cartilage inflammation and damage

Less commonly, RP may affect the heart, kidneys, nervous system, gastrointestinal tract, and/or vascular (veins) system. Nonspecific symptoms such as fever, weight loss, malaise, and fatigue may also be present. Symptoms usually begin in adulthood between the ages of 20 and 60, but RP has been diagnosed in children as well.

In approximately one third of affected people, RP is associated with other medical problems. Conditions reportedly associated with RP include hematological diseases (including Hodgkin's lymphoma and myelodysplastic syndromes); gastrointestinal disorders (including Crohn's disease and ulcerative colitis); endocrine diseases (including diabetes mellitus type 1 and thyroid disorders) and others.

Episodes of RP may last a few days or weeks and typically resolve with or without treatment. However, it is generally progressive, and many people have persistent symptoms in between flares. The most serious symptoms involve the airways and heart.

• Inflammation of the cartilage of both ears
• Seronegative (negative for rheumatoid factor) polyarthritis (arthritis that involves 5 or more joints simultaneously)
• Inflammation of the cartilage of the nose
• Eye inflammation (conjunctivitis, episcleritis, scleritis, and/or uveitis)
• Inflammation of the cartilage of the airway
• Vestibular dysfunction (i.e. vertigo, hearing loss, tinnitus)

The primary goals of treatment for people with relapsing polychondritis (RP) are to relieve present symptoms and to preserve the structure of the affected cartilage. The main treatment for RP is corticosteroid therapy with prednisone to decrease the severity, frequency and duration of relapses. Higher doses are generally given during flares, while lower doses can typically be prescribed during periods of remission. Other medications reported to control symptoms include dapsone, colchicine, azathioprine, methotrexate, cyclophosphamide, hydroxychloroquine, cyclosporine and infliximab.

People who develop severe heart or respiratory complications may require surgery.

Living with a rare disease called relapsing polychondritis

The first sign Meredith Winchell noticed was trouble breathing. At the time, she worked as an analyst at NIH. First, she started losing her breath just walking down a hallway at work. Then new symptoms started showing up, and they kept getting worse. Five years later, after countless doctor’s visits, diagnostic tests, and trips to the emergency room, she was diagnosed with a rare disease called relapsing polychondritis.

Relapsing polychondritis – “RP” for short – causes widespread inflammation (pain and swelling). It also breaks down cartilage (the tissue that protects your bones and joints) in certain parts of the body.
Common symptoms include:

• pain and swelling in cartilage (especially in ears and nose);
• pain, redness, and swelling in joints;
• sore throat, neck pain, and hoarseness; and
• hearing loss, tinnitus (ringing), and dizziness.

Most people don’t know about RP, so Meredith has learned to ask, “do you know what that is?” when she meets someone new.

An invisible disease

RP is extremely rare, and like many rare diseases, RP is an invisible disease. Doctors don’t know what causes RP, and getting the right diagnosis and treatment is one of the biggest challenges for people who have it.

Without a biomarker (biological material that can measure and identify diseases), there’s no way to test for RP. This means that doctors need to rely on patients’ symptoms to diagnose it. Unfortunately, RP can cause different kinds of symptoms in different people. Symptoms also don’t always seem related to each other, and they can come and go. For example, Meredith said her ear isn’t inflamed right now, but that doesn’t mean it won’t be in the next few hours or days.

Classic symptoms led to diagnosis

When Meredith first visited the doctor for her breathing problems, doctors told her she had asthma and gave her albuterol (an inhaler that relaxes and opens the airways to the lungs). When that didn’t work, they tried a steroid inhaler, which helped a little.

Along with trouble breathing, Meredith had extreme pain and inflammation in her stomach area, colon, and digestive tract and in her skin, joints, and sternum (the cartilage that connects the ribs). She took tests to find out what was wrong, but the tests didn’t give enough information to either diagnose or rule out any disease. One doctor told her it must be anxiety.

Meanwhile, her symptoms became so bad that she had to stop working. During an especially painful flare-up she went to the emergency room four times in a month. Luckily, a doctor there recognized the most common and visible RP symptoms – ear, nose, eye, and joint inflammation – and sent her to a rheumatologist (a doctor who specializes in joint, muscle, and bone diseases). The rheumatologist took one look at her and knew it was RP.

"Anything I can do to get more information and more data to get answers I consider a good day."

– Meredith Winchell

Disease impacts every part of life

Meredith considers herself lucky. She knows other people with RP whose diagnoses took even longer than hers. But getting diagnosed was just one part of her journey. Because there aren’t any treatments designed specifically for RP, doctors typically try giving RP patients therapies that work for other rheumatic and autoimmune diseases with similar symptoms. Sometimes they work, but not always.

Meredith’s RP and the side effects from its treatment impacts every part of her life. Her work was an important part of her identity before she got RP, and it’s hard not being able to work full time anymore. The medications she takes to help with inflammation suppress her immune system, which makes her more likely to get infections.

In each moment, she’s constantly adjusting her breath, her body, and her interactions to help her stay within her limits. “There’s never a time I’m not thinking about my disease,” she says.

Support from people who know what it’s like

Meredith joined her first RP Awareness support group on Facebook a few days after her diagnosis. Now she’s part of several Facebook groups for RP patients, doctors, researchers, and caregivers from countries around the world. They talk about research and raising awareness about RP. For Meredith, these groups are a way to stay informed about what’s happening in RP research and advocacy in other countries. But they also look out for each other, and Meredith says there’s nothing like the understanding and support from people who know what it’s like to live with RP.

Offline, Meredith’s biggest supports are her family and friends, her husband Dillon who she calls her “rock and caregiver,” and the talented doctors who work together to plan her care. She’s especially grateful for her rheumatologist Dr. Paola Pinto and NIH RP researcher Dr. Marcela Ferrada.

When there’s research, there’s hope

On the days when her symptoms are the worst, Meredith reminds herself of something Dr. Ferrada often says: “where there’s research, there’s hope.”

When Meredith was first diagnosed, most of what we knew about RP was based on old research from the 1970s. Luckily, that’s changing. Today, we know much more about who gets RP and its symptoms. Meredith says it’s easier now to find good, clear information on RP.

But there’s still so much we don’t know. Most importantly, what causes RP, and how it evolves. That’s one reason Meredith became involved in an NIH study led by Dr. Ferrada that follows people with RP over time. “Anything I can do to get more information and more data to get answers,” she says, “I consider a good day.”