Challenges diagnosing lung disease and ILD in pediatric patients Save

Children with juvenile idiopathic inflammatory myositis (JIIM) are at risk of developing lung disease, notably interstitial lung disease (ILD). ILD can be asymptomatic initially, progressing silently to irreversible lung damage, which underscores the importance of early detection and monitoring. Although clinical symptoms such as exercise intolerance, cough, digital clubbing, and respiratory failure, can signify advanced disease, early identification remains challenging, especially in pediatric populations.

Current guidelines recommend a comprehensive approach for diagnosing ILD in JIIM. Initial screening includes pulmonary function tests (PFTs) such as spirometry, lung volumes, and diffusing capacity for carbon monoxide (DLCO), alongside myositis-specific antibody testing, notably anti-MDA5 and antisynthetase antibodies, to stratify patients by risk. PFT abnormalities—particularly restrictive ventilatory defects and decreased DLCO—are common indicators of early lung involvement but can miss subtle or subclinical changes.

High-resolution computed tomography (HRCT) is advocated for those with abnormal PFTs, respiratory symptoms, or autoantibody profiles suggestive of higher ILD risk, due to its superior sensitivity in detecting early ILD. Routine chest X-rays are generally not recommended for screening because of low sensitivity.

However, conducting pulmonary monitoring in children presents unique challenges.

PFTs are less sensitive in early disease and can be difficult for young children to perform reliably. Most children cannot undergo accurate PFTs until about age 6, and even then, cooperation can be limited, especially in those with significant musculoskeletal weakness. Although newer techniques such as impulse oscillometry and tidal breathing analysis are emerging to improve feasibility in younger children, normative data and validation are still evolving.

The use of HRCT is crucial for detailed assessment, especially when PFTs and clinical presentation suggest ILD. It is considered the gold standard for initial diagnosis and detecting early or subtle disease. Nonetheless, because of the risks linked to ionizing radiation—especially in children—routine HRCT screening is not recommended. Instead, HRCT is reserved for cases with abnormal PFTs, new symptoms, or evidence of disease progression. When performed, using the lowest radiation dose with thin-slice imaging is essential to reduce long-term risks, including radiation-induced malignancies.

Emerging imaging modalities, such as lung ultrasound, show promise for non-invasive ILD monitoring. Lung ultrasound has demonstrated high sensitivity and specificity comparable to HRCT, particularly for peripheral and subpleural abnormalities, and offers advantages such as safety, accessibility, and suitability for serial assessments, even in young children. However, lung ultrasound cannot identify central or peri-hilar regions when compared to HRCT and at best may represent a valuable complementary approach. Magnetic resonance imaging (MRI), especially advanced techniques like xenon MRI, is also being explored for lung imaging without radiation, with potential for early diagnosis and monitoring treatment response.

In conclusion, a multimodal approach is vital for monitoring ILD in pediatric inflammatory myopathies. PFTs serve as initial screening tools but have limited sensitivity, particularly in younger children and children with significant weakness. HRCT remains the definitive modality when detailed assessment is needed, with efforts focused on minimizing radiation exposure. Close collaboration between rheumatologists and pulmonologists is important to optimize early diagnosis and treatment.  In future, lung ultrasound and emerging MRI techniques may offer effective longitudinal monitoring, reducing reliance on ionizing radiation while maintaining diagnostic accuracy.

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