26th January 2024

Presentation

• The initial clinical symptoms of MCTD tend to be non-specific features such as malaise, arthralgia, fever and Raynaud’s phenomenon. 
• The most common presenting symptoms are arthralgia with swollen hands, Raynaud’s and gastro-oesophageal reflux.
  • RP almost always presents initially and occurs in about 96% of patients with MCTD.
  • Arthritis: Swollen fingers and diffuse oedema, sometimes with arthritis and bone deformities in the hands, are present in 96% of patients. 
  • Oesophageal hypomotility: symptoms of GORD are present in 66% of patients 
• Myalgias: Muscle aches are common. However, elevation of inflammatory muscle enzymes and changes on EMG are not usually seen. 
• Rash: A skin rash may be observed in 53% of patients and is usually vasculitic in nature.
• Pulmonary involvement: This occurs in approximately 75% of patients and may present as pleural effusion, interstitial lung disease, thromboembolic events or rarely, pulmonary hypertension. 
• Haematological manifestations: Leukopenia is present in 53% of patients, and findings of anaemia or hypergammaglobulinemia are also common. 

Image Source: Rahmouni S et al. (2020) Mixed connective tissue disease: Not always an obvious diagnosis. Clinical case reports. 2020 Oct; 8(10): 1979-1983. Licensed under a commercial Creative Commons license Available at: https://onlinelibrary.wiley.com/doi/full/10.1002/ccr3.3045 (Accessed: 21 Decemvber 2023). 

Image Source: Rahmouni S et al. (2020) Mixed connective tissue disease: Not always an obvious diagnosis. Clinical case reports. 2020 Oct; 8(10): 1979-1983. Licensed under a commercial Creative Commons license. Available at: https://onlinelibrary.wiley.com/doi/full/10.1002/ccr3.3045 (Accessed: 21 December 2023).