Diagnostic workup for mixed connective tissue disease in childhood

Raynaud's phenomenon, fatigue and pain (myalgia and arthralgia) are important presenting symptoms of pediatric-onset mixed connective tissue disease. The difficulty is that many adolescent girls complain of pain along with fatigue without evidence for serious disease. However, in patients with Raynaud's phenomenon one should search for evidence of connective tissue diseases. Capillaroscopy could be helpful since capillary changes of the SD-type significantly correlate with future development of scleroderma spectrum disorders. Symptoms of MCTD change in most patients during the disease course: in general the inflammatory features that are also seen in systemic lupus erythematosus and juvenile dermatomyositis have the tendency to disappear over years, but Raynaud's phenomenon is persistent and scleroderma symptoms become progressively prominent. Long-lasting remission occurs only in a minority of patients, while the majority has mild disease activity. Mortality in children with MCTD is lower than in adults. Since a change of symptoms is in the nature of the disease, a thorough and frequent evaluation of children with (probable) MCTD is important to detect organ involvement, which should be treated at an early (pre-symptomatic) stage. We present a diagnostic workup scheme for children and adolescents with propable MCTD.