Overview

Relapsing polychondritis is a rare, chronic autoimmune disease characterized by recurrent inflammation of cartilage and other connective tissues throughout the body. It primarily affects the ears, nose, joints, eyes, and respiratory tract. The inflammation causes the breakdown of cartilage, leading to pain, deformities, and potential organ complications. The course of the disease is unpredictable, with alternating periods of flares and remission. While relapsing polychondritis can occur at any age, it typically presents in middle-aged adults and affects both men and women equally.

Causes

The exact cause of relapsing polychondritis remains unknown, but it is believed to be an autoimmune condition where the immune system mistakenly attacks the body's own cartilage. Contributing factors may include:

• Autoimmune response: The immune system targets cartilage proteins, especially type II collagen, leading to inflammation.
• Genetic predisposition: Certain genetic markers may increase susceptibility, although no specific inherited pattern has been confirmed.
• Association with other autoimmune diseases: Relapsing polychondritis frequently coexists with other autoimmune disorders, such as rheumatoid arthritis, systemic lupus erythematosus, or vasculitis.
• Environmental triggers: Infections or other environmental exposures may trigger disease onset or flare-ups in susceptible individuals.

Symptoms

Symptoms of relapsing polychondritis vary depending on which tissues are affected but commonly include:

• Ear inflammation: Redness, pain, and swelling of the outer ear (sparing the ear lobe), which can lead to deformities like “cauliflower ear.”
• Nasal involvement: Inflammation of the nasal cartilage, leading to nasal pain and a saddle-nose deformity over time.
• Joint pain: Non-erosive, migratory arthritis affecting multiple joints, often with stiffness and swelling.
• Eye inflammation: Scleritis, episcleritis, or uveitis can cause redness, pain, and visual disturbances.
• Respiratory tract involvement: Inflammation of tracheal and bronchial cartilage can cause hoarseness, coughing, shortness of breath, or airway collapse in severe cases.
• Hearing loss or vertigo: Inner ear involvement may lead to balance issues or hearing problems.
• Skin rashes: Less commonly, skin manifestations like nodules or purpura may occur.
• Systemic symptoms: Fatigue, fever, and weight loss are often reported during flare-ups.

Diagnosis

Relapsing polychondritis is diagnosed clinically, as there are no specific laboratory tests. The diagnostic process involves:

• Clinical criteria: Diagnosis is based on the presence of characteristic symptoms, often supported by McAdam’s criteria, which include inflammation in two or more cartilaginous sites or a positive biopsy.
• Physical examination: Identifies visible signs of cartilage inflammation in the ears, nose, eyes, or joints.
• Blood tests: Non-specific inflammatory markers like ESR (erythrocyte sedimentation rate) and CRP (C-reactive protein) are often elevated.
• Imaging studies: CT or MRI scans may show cartilage inflammation, especially in the airways or joints.
• Biopsy: In uncertain cases, a biopsy of affected cartilage may confirm the diagnosis by showing inflammation and cartilage destruction.

Treatment

Treatment for relapsing polychondritis focuses on reducing inflammation, controlling symptoms, and preventing complications:

• Nonsteroidal anti-inflammatory drugs (NSAIDs): Used for mild symptoms, particularly joint pain and minor flares.
• Corticosteroids: Prednisone is often prescribed to control moderate to severe inflammation and prevent organ damage.
• Immunosuppressive agents: Medications such as methotrexate, azathioprine, or mycophenolate mofetil are used in steroid-sparing strategies for long-term control.
• Biologic therapies: In resistant cases, biologics like TNF inhibitors or rituximab may be considered.
• Airway management: In cases of airway involvement, interventions such as stents or surgery may be necessary to prevent airway collapse.
• Monitoring and supportive care: Regular monitoring, hearing aids for hearing loss, and supportive therapies for ocular or joint symptoms are often required.

Prognosis

The prognosis of relapsing polychondritis varies depending on the severity of organ involvement:

• Mild to moderate cases: Many patients experience manageable symptoms with appropriate treatment and may have long remission periods.
• Severe cases: Life-threatening complications can occur, especially when the airways, heart valves, or major blood vessels are involved.
• Progressive nature: The disease often follows a relapsing-remitting course, but some patients may develop chronic damage over time.
• Improved outcomes with treatment: Early recognition and modern immunosuppressive therapies have improved the quality of life and reduced serious complications.

Regular follow-up with a multidisciplinary healthcare team is essential to manage relapsing polychondritis effectively and improve long-term outcomes.