Which are the causes of Relapsing Polychondritis?

The exact cause of Relapsing Polychondritis remains unknown, but current evidence suggests it is an autoimmune disorder where the body’s immune system mistakenly attacks its own cartilaginous tissues. While research is ongoing, it is widely considered to be a multifactorial condition triggered by a complex interplay between genetic predisposition and environmental factors.

What triggers the immune system in Relapsing Polychondritis?

In Relapsing Polychondritis, the immune system produces antibodies that target type II collagen—a primary structural protein found in cartilage. When this happens, white blood cells infiltrate the cartilage, causing inflammation and destruction. Think of your immune system as a security team that has misidentified a "friend" (your healthy cartilage) as an "intruder," leading to chronic, recurring damage.

Is Relapsing Polychondritis a genetic disease?

Relapsing Polychondritis is not strictly inherited, meaning it is not caused by a single, simple genetic mutation that is passed down through families. While researchers have identified associations with certain human leukocyte antigen (HLA) types—specifically HLA-DR4—these genes only increase susceptibility rather than guaranteeing the development of the disease. Most individuals diagnosed with Relapsing Polychondritis have no family history of the condition.

What are the suspected risk factors for this condition?

While the root cause is elusive, medical researchers are investigating several potential contributors to Relapsing Polychondritis development:

• Autoimmune co-occurrence: Approximately 30% of patients have another autoimmune disease, such as rheumatoid arthritis, systemic lupus erythematosus, or vasculitis.


• Environmental exposures: Some studies hypothesize that unidentified viral or bacterial triggers may initiate the autoimmune response in genetically susceptible individuals.


• Age of onset: The disease most commonly presents between the ages of 40 and 60, though it can occur at any age.

How is current research improving our understanding?

Ongoing clinical studies are focused on identifying biomarkers that could lead to earlier diagnosis. Because Relapsing Polychondritis is rare, researchers are increasingly using international registries—including data shared by the 468 members of the DiseaseMaps.org community—to track disease progression and treatment responses. By analyzing these shared experiences, scientists hope to uncover the precise molecular pathways that initiate Relapsing Polychondritis flares.

Next steps

• Consult with a board-certified rheumatologist who specializes in systemic autoimmune conditions.


• Join the DiseaseMaps.org community to connect with others sharing similar experiences.


• Keep a detailed symptom diary to help your physician identify potential triggers for your specific flares.

Medical disclaimer: This content is for informational purposes only and does not constitute professional medical advice, diagnosis, or treatment; always seek the advice of your physician or other qualified health provider with any questions regarding a medical condition.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Relapsing Polychondritis.


• Orphanet: Relapsing Polychondritis (ORPHA:733).


• OMIM (Online Mendelian Inheritance in Man): Entry #266400.


• PubMed/NCBI: Current reviews on the pathogenesis of systemic chondromalacia.