Relapsing Polychondritis: Symptoms, Causes, Diagnosis & Treatment

Relapsing polychondritis is a rare autoimmune disease that causes repeated episodes of inflammation in the body’s cartilage, including the ears, nose, joints, and airways. The condition can appear at any age but is most common in middle-aged adults and affects both men and women. It tends to progress slowly over time, with periods of flare-ups and remission.

Many symptoms are related to painful, swollen, or tender cartilage, especially in the ears and nose. Some people also develop breathing problems when inflammation affects the throat or windpipe. Other organs, such as the eyes, joints, and heart, may also become involved, with symptoms varying widely from person to person.

Treatment for relapsing polychondritis depends on the organs affected and the severity of symptoms. Mild cases may respond to anti-inflammatory medication, while moderate or severe cases often require corticosteroids, immunosuppressants, or biologic therapies. 

Main symptoms

Relapsing polychondritis causes episodes of inflammation in cartilage and nearby tissues. Symptoms may affect several parts of the body, and may include:

• Pain, swelling, and redness in the outer ear, with the earlobe usually unaffected

• Nasal tenderness, swelling, or collapse that may lead to a saddle-nose deformity

• Hoarseness, cough, shortness of breath, or noisy breathing related to airway inflammation

• Joint pain or stiffness

• Chest pain caused by costochondritis

• Eye inflammation, such as scleritis or uveitis

• Hearing loss, tinnitus, vertigo, or balance problems

• Fatigue, fever, or unintentional weight loss

• Skin changes such as nodules, purpura, or ulcers

• Rare kidney issues, including nephritis or glomerulonephritis

These symptoms may come and go, but repeated episodes can gradually lead to tissue damage.

Causes

Relapsing polychondritis is believed to be an autoimmune condition in which the immune system mistakenly attacks the body’s own cartilage. The exact cause is not fully known, but several factors are thought to contribute, like:

• Genetic predisposition: Certain HLA types are associated with a higher risk.

• Abnormal immune response: Antibodies that target cartilage proteins, such as collagen, have been identified in many people with the condition.

• Environmental triggers: Infections, toxins, or trauma may trigger flare-ups in susceptible individuals.

• Microbiome changes: Differences in gut bacteria may play a role, based on recent research.

Relapsing polychondritis is not contagious and cannot be transmitted from person to person.

Diagnosis

There is no single test that confirms relapsing polychondritis. Diagnosis is based on symptoms, physical examination, and the pattern of cartilage involvement. Clinical criteria such as the McAdam, Damiani and Levine, or Michet criteria are often used to support the diagnosis.

Blood tests may show elevated inflammatory markers like ESR or CRP, but these results are not specific. Imaging tests such as CT, MRI, or PET/CT can reveal cartilage inflammation or airway collapse. In some cases, a biopsy of the affected cartilage may help confirm the diagnosis.

Treatment options

Treatment plans depend on disease severity, symptoms, and how various organs are affected. The goal is to control inflammation, prevent tissue damage, and reduce the frequency of flare-ups.

1. Mild cases

Mild relapsing polychondritis is often managed with nonsteroidal anti-inflammatory drugs, colchicine, or dapsone. Low-dose corticosteroids may also be used to control symptoms.

2. Moderate to severe cases

Moderate to severe disease may require higher doses of corticosteroids to quickly reduce inflammation. Immunosuppressant medications such as methotrexate, azathioprine, cyclophosphamide, cyclosporine, or mycophenolate mofetil may also be needed to control symptoms and prevent flare-ups.

3. Biologic therapies

Biologic medicines may be recommended when symptoms are difficult to control or when the disease continues to flare despite other treatments. These may include TNF-alpha inhibitors like infliximab or adalimumab, tocilizumab, and abatacept. Other biologics, including rituximab or anakinra, may be considered in certain cases.

4. Airway management

Airway involvement can be serious and sometimes requires non-invasive ventilation support. A tracheostomy may be necessary when there is significant airway narrowing, and airway stenting may be considered in select cases, although complications can occur.

5. Surgical options

Surgery may be needed in certain situations, such as repairing or replacing damaged heart valves, performing aortic repair, or treating severe airway obstruction.

Prevention

There are no proven ways to prevent relapsing polychondritis because the exact cause is unknown. Early diagnosis and appropriate treatment are important to help prevent long-term cartilage damage and serious complications, especially those involving the airways. Regular monitoring can help detect new organ involvement as early as possible.