Relapsing polychondritis (RP) is a rare immune-mediated disease characterized by recurrent episodes of chondritis. The pathogenesis of RP is poorly understood, and clinical manifestations can be variable resulting in a delay of diagnosis, especially in children. Auricular chondritis is a specific diagnostic finding but patients may also have life threatening involvement of multiple organs. We sought to explore the various patterns of early disease presentation in children by way of an international survey.

Methods:

A questionnaire based on known clinical symptoms and several possible clinical presentations associated with RP was developed. The Relapsing Polychondritis Awareness and Support Foundation administered the survey by posting the link to it on the Relapsing Polychondritis pediatric support group. The survey was anonymous and met criteria for exemption from IRB review per CFR 46 and NIH policy and was approved by the Office of Human Subjects Research Protections.

Results:

We had a total of 15 surveys completed; 2 patients were excluded from this analysis because they were older than 18 years of age at the time of diagnosis. The mean current age was 14.6 years (SD=6), with mean age at diagnosis of 9.9 years (SD=5). The majority of the patients were male 62% (n=8). 69% (n=9) of the patients saw more than 3 doctors prior to obtaining a diagnosis, and only 30% (n=4) were diagnosed by a rheumatologist. The most common symptom prior to diagnosis was ear pain or redness (85%; n=11). The most common painful joints were ankles and knees (each 38%; n=5). 46% (n=6) of the patients were diagnosed 1-3 years after onset of symptoms. 77% of the patients went to an emergency room due to RP symptoms prior to diagnosis with the top two reasons of ear pain 38% (n=5) and shortness of breath 31% (n=4). 38% (n=5) of the patients were diagnosed with asthma prior to establishing the RP diagnosis. The majority of the patients reported no association between symptoms and diet (67%; n=8). However, 62% (n=8) reported that weather changes were symptom triggers. In females, 80% (n=4) had worsening of symptoms with menses. 77% (n=10) of the patients missed school for more than a week and 69% (n=9) missed more than a month of school due to their disease. The most common DMARD used to treat RP was methotrexate 46% (n=6).

Conclusion:

Here we report data from 13 pediatric patients with a rare disease. In this cohort, we found RP may adversely impact school attendance. We also found that there were possible environmental and personal triggers such as weather and menstruation. Our data suggest that establishing a diagnosis was difficult as evidenced by the fact that the majority of patients saw more than 3 doctors prior to establishing a diagnosis. The majority of doctors making the diagnosis were not rheumatologists. Although the most common symptoms were ear pain and redness, knee and ankle pain were also common. The data reported in this small cohort of patients provides important descriptions of presenting features and the burden of RP in children including missed school, emergency room visits, dependent joint arthritis, and pulmonary symptoms.