Abstract Background/Aims Mixed connective tissue disease (MCTD) presents with features of systemic lupus erythematosus (SLE), myositis, and systemic sclerosis (SSc), requiring multidisciplinary input and systematic assessment across organ systems. Although clinical practice guidelines do not exist for MCTD, there are clear published standards for the single disease entities such as SSc, IIMs and SLE. We evaluated assessment of patients with MCTD across an adult and paediatric tertiary service. Methods A retrospective observational study was conducted between Liverpool University Hospitals NHS Foundation Trust and Alder Hey Children’s NHS Foundation Trust. Patients were identified using electronic case records by key search terms of MCTD over the preceding 5 years and cross-referenced with RNA positivity. Included patients met international classification criteria for MCTD. Results We identified 22 paediatric and 54 adult patients. Evaluation of organ involvement is shown in Table 1. Of the patients identified, 13/54 (24.1%) of adults and 1/22 (4.5%) of children had interstitial lung disease (ILD). No cases of pulmonary hypertension were detected. Cardiac and renal involvement were uncommon (2/54 3.7% adults, 1/22 4.5% children; and 4/54 adults 7.04%, 1/22 4.5% children respectively). Overall, 15 adults (27.8%), including all those with ILD, were reviewed in a specialist ILD clinic, as were 2 children (including 1 with ILD). Gastrointestinal evaluation was performed, including manometry, video fluoroscopy, abdominal ultrasound endoscopy, in 12/22 (54%) children and 31/52 (57.4%) adults. MDT assessment was variable, with 33% of children assessed by physiotherapy, 86% by occupational therapy and 81% by clinical psychology. Adults were seen less frequently (physiotherapy 21%, occupational therapy 1.8%, clinical psychology 1.8%). Conclusion This evaluation highlights an unmet need for this patient group. We would support the development of clinical practice guidelines for the assessment and management of patients with MCTD. Without detailed assessment of manifestations, we risk not recognising the spectrum of potential disease manifestations which can evolve over time. Recognising that such assessment is multifaceted and MDT-led, incorporating patient-reported outcome measures (PROMs), detailed clinical evaluation, and relevant investigations, is essential to delivering the best care. This requires improved access to the wider MDT, specifically occupational therapy and clinical psychology, which, particularly within adult services, is very limited. Disclosure B. Almoosawi: None. S. Gall: None. L. Gatti: None. A. Reeves: None. F. Dell’Accio: None. D. Kane: None. R. Benson: None. C. Pain: None.
Almoosawi et al. (2026) studied this question.