An Overview of Relapsing Polychondritis

Relapsing polychondritis (RP) is a rare autoimmune condition that causes recurrent inflammation of cartilage and other tissues throughout the body. Cartilage is the tough and flexible tissue that covers the ends of the bones at the joints and gives shape and support to other body parts. The ear is most often affected by RP, but any part of the body containing cartilage can be affected, including the nose, airways, ribcage, and joints. The signs of relapsing polychondritis vary person-to-person and are related to the parts of the body that are affected.

Researchers believe RP is an autoimmune disease, although they are uncertain of what specifically causes the condition. The goal of treatment is to relieve symptoms and preserve affected cartilage structures.

According to the Genetic and Rare Diseases Information Center (GARD) of the U.S. Department of Health and Human Services, 80% to 99% of people with relapsing polychondritis experience:

• Joint inflammation (arthritis)
• Clouding of the lens of the eye (cataract)
• Cartilage inflammation (chondritis)
• Inflammation of the external ear (chondritis of pinna)
• Blood vessel inflammation of the large arteries (vasculitis)

Additional symptoms of RP include:

• A saddle or pug-nose that appears as a dip in the bridge of the nose
• Ear pain and redness
• Red, painful, and swollen eyes
• Rib pain
• Throat or neck pain
• Problems with breathing or speaking
• Dysphagia (trouble swallowing)
• Rashes

RP is also known for causing problems with a heart valve or the kidney. When RP affects the inner ear, it may cause balance problems, trouble hearing, and vertigo (a condition that makes a person feel dizzy or sick to their stomach).

If RP affects the windpipe, it can cause a chronic cough or problems with breathing and swallowing. RP can also cause severe pain in the ribs and breastbone.

It is estimated there are 3.5 out of every 1,000,000 people diagnosed with relapsing polychondritis yearly worldwide, this according to an August 2018 report in the journal Biomedicine. Most new diagnoses occur in people in their 40s and 50s, but RP can affect anyone, regardless of age.

Pediatric cases of RP account for less than 5% of the reported cases, affecting children as early as a month old to age 17.

The disease presents similarly in both adults and children. It affects both genders, although women are slightly more affected. It affects all ethnic groups with whites and Asians experiencing differences in symptoms in comparison to other ethnic groups.

An exact cause for relapsing polychondritis is unknown, but researchers suspect RP is an autoimmune disease. The condition is believed to be the result of the body’s immune system mistaking healthy cartilage and tissues for diseased ones.

In general, risk factors for autoimmune diseases include genetics and a combination of life and environmental factors. Some cases of RP might be triggered by long-term stress or things in the environment. There has been evidence that suggests some people are born with a genetic susceptibility to RP.

A genetic trait called HLA-DR4 that makes some people twice as likely to develop the condition. HLA, or human leukocyte antigen, is an important part of the immune system that is responsible for resistance to and risk for certain diseases.

There isn’t a specific test for making a diagnosis of relapsing polychondritis. Your doctor will perform a physical exam and ask you about symptoms. He or she may request bloodwork to look for signs of inflammation or X-rays to see affected areas.

Diagnosis of RP involves meeting three of six specific criteria. These include: 

• Cartilage inflammation of both ears
• Cartilage inflammation of the nose
• Inflammation of the cartilage in the airway
• Arthritis in at least five joints at the same time
• Hearing or balance problems
• Inflammation of the eyes

Depending on the symptoms you are experiencing, your doctor may request a biopsy. This involves taking a small amount of tissue to look at under a microscope.

You may need to see other specialists to treat the disease, based on the type of symptoms you experience. For example, you may want to see a rheumatologist, who is an expert on arthritis conditions and autoimmune diseases, or a cardiologist if you are experiencing heart-related and breathing problems, or a pain management specialist to help you manage pain symptoms.

There is no cure for relapsing polychondritis, but the condition is treatable. The main goals of treatment are to relieve symptoms and preserve cartilage in the affected area.

The main treatment for RP is corticosteroid therapy with prednisone. This drug is known for reducing severity, duration, and frequency of symptoms.

Anti-inflammatory drugs, such as Advil or Motrin, can help manage pain and relieve inflammation in people with mild cases of the condition. In severe cases, your doctor may recommend stronger drugs that slow down your overactive immune system.

Methotrexate, a disease-modifying antirheumatic drug (DMARD), has been shown to be a promising treatment for RP in combination with prednisone as a maintenance treatment. Research further points to methotrexate reducing the need for steroid treatment.

Other DMARDs, including Imuran (azathioprine) and Cytoxan (cyclophosphamide), and biologic DMARDs such Humira (adalimumab) and Remicade (infliximab), or a combination—with or without methotrexate—of these treatments have been helpful to patients who do not get relief with methotrexate alone.

The long-term outlook for relapsing polychondritis varies person-to-person. Generally, the condition is chronic and progressive which means it will get worse with time. In people with severe disease, disability is possible, including visual or hearing impairment, vestibular dysfunction­—such as benign paroxysmal positional vertigo (a harmless chronic, long-term type of vertigo)­—or cardiopulmonary (heart and lung) disease.

Severe cases of RP are life-threatening. However, there have been improvements in survival rates and disease outcomes in recent years, and many people with RP, and other autoimmune diseases, continue to live long and fulfilling lives. Even people who develop impairments can go on to have better outcomes with newer and stronger treatment options.