European journal of internal medicine · 2026
European practices for screening and follow-up in mixed connective tissue disease: a survey of clinicians from the European Federation of Internal Medicine and ERN ReCONNET.
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Chevalier Kevin, Truchetet Marie-Elise, Comarmond Cloé, de Vries-Bouwstra Jeska, Ong Voon, Triggianese Paola, Marinello Diana, Mosca Marta, Randone Silvia Bellando, Pietro-Gonzalez Sergio, Brkic Zana, Guimarães Vera, Ciupera Magdalena, Olesinska Marzena, Mouthon Luc, Chaigne Benjamin, European Federation of Internal Medicine Diseases Systemic Autoimmune Diseases working group and the European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Mixed connective tissue group
Аннотация
INTRODUCTION: Mixed connective tissue disease (MCTD) is a rare systemic autoimmune disorder in which interstitial lung disease (ILD) and pulmonary hypertension (PH) constitute the leading causes of death. No MCTD-specific recommendations currently exist regarding the timing, frequency, or indications for key paraclinical investigations. This study aimed to assess current European clinical practices regarding the use of high-resolution computed tomography (HRCT), pulmonary function tests (PFTs), transthoracic echocardiography (TTE), and nailfold capillaroscopy (NFC) in MCTD patients.
METHODS: We conducted a cross-sectional survey distributed through the European Federation of Internal Medicine (EFIM) and the European Reference Network for Rare and Complex Connective Tissue and Musculoskeletal Diseases (ERN ReCONNET).
RESULTS: One hundred and thirty-five clinicians from 102 centers in 21 European countries were included. Respondents were predominantly rheumatologists (61.5%) and internists (32.6%). Systematic baseline screening was performed by 91.1% of respondents for PFTs, 85.9% for TTE, 74.1% for HRCT, and 71.9% for NFC. However, substantial heterogeneity was observed in follow-up strategies: 61.5% relied on clinical judgement alone to guide HRCT re-screening in ILD-negative patients, and 35.6% did not repeat NFC in patients with a scleroderma-like pattern at baseline. Referral for RHC after TTE suggestive of PH was also heterogeneous, with 34.8% requiring prior DETECT algorithm validation, despite this algorithm not being validated in MCTD.
CONCLUSIONS: This first European survey on paraclinical monitoring practices in MCTD reveals a broadly proactive approach to baseline screening, but highlights critical gaps in follow-up standardization. These data provide an empirical foundation for the development of evidence-based, MCTD-specific monitoring recommendations.
METHODS: We conducted a cross-sectional survey distributed through the European Federation of Internal Medicine (EFIM) and the European Reference Network for Rare and Complex Connective Tissue and Musculoskeletal Diseases (ERN ReCONNET).
RESULTS: One hundred and thirty-five clinicians from 102 centers in 21 European countries were included. Respondents were predominantly rheumatologists (61.5%) and internists (32.6%). Systematic baseline screening was performed by 91.1% of respondents for PFTs, 85.9% for TTE, 74.1% for HRCT, and 71.9% for NFC. However, substantial heterogeneity was observed in follow-up strategies: 61.5% relied on clinical judgement alone to guide HRCT re-screening in ILD-negative patients, and 35.6% did not repeat NFC in patients with a scleroderma-like pattern at baseline. Referral for RHC after TTE suggestive of PH was also heterogeneous, with 34.8% requiring prior DETECT algorithm validation, despite this algorithm not being validated in MCTD.
CONCLUSIONS: This first European survey on paraclinical monitoring practices in MCTD reveals a broadly proactive approach to baseline screening, but highlights critical gaps in follow-up standardization. These data provide an empirical foundation for the development of evidence-based, MCTD-specific monitoring recommendations.