Access to care for children and young people diagnosed with localized scleroderma or juvenile SSc in the UK

Area of Science:

• Pediatric Rheumatology
• Dermatology
• Autoimmune Diseases

Background:

• Localized scleroderma (LS) and juvenile systemic sclerosis (jSSc) are rare autoimmune conditions affecting children.
• Timely diagnosis and intervention are critical for managing these chronic diseases and preventing long-term complications.

Purpose of the Study:

• To delineate the care pathways and referral timelines from symptom onset to diagnosis for pediatric patients with LS and jSSc.
• To identify potential delays in the diagnostic process within the UK healthcare system.

Main Methods:

• A retrospective case note audit was conducted across eight UK centers, analyzing data from January 2005 to January 2010.
• Patient data included disease subtype, demographics, and healthcare professional (HCP) contact points throughout the referral pathway.
• Pseudo-anonymization was employed to ensure patient confidentiality.

Main Results:

• The study reviewed 89 cases (73 LS, 16 jSSc), with a median time of 13 months (LS) and 8 months (jSSc) from first symptom to diagnosis.
• Significant delays were observed, with median times from first symptom to first HCP review ranging from 1 to 4 months, and to pediatric rheumatology review ranging from 7 to 15 months.
• General practitioners were the most frequent initial HCP, while dermatologists were the primary referrers to pediatric rheumatology for LS.

Conclusions:

• A considerable delay exists between symptom onset and definitive diagnosis for pediatric LS and jSSc.
• These prolonged diagnostic intervals may negatively impact patient outcomes.
• Increased awareness of these rare conditions among healthcare professionals is essential for facilitating earlier diagnosis and management.