Background/Purpose:  : Mixed connective tissue disease (MCTD) is characterized by overlapping features of SLE, SSc, PM/DM and rheumatoid arthritis together with the presence of high-titre of anti-RNP antibodies. Its most common clinical manifestations are Raynaud’s phenomenon, arthritis, sclerodactyly, edema in the hands and myositis. However, organ involvement is more extensive than first descriptions reported. The disease can be serious with development of pulmonary, kidney, cardiovascular, gastrointestinal and neurological manifestations. The objective of the present study was to evaluate the frequency and the different types of organ damage in a well characterized cohort of patients with MCTD.

Methods: Ambispective study of 42 MTCD patients, all of them fulfilling the diagnostic criteria proposed by Alarcon-Segovia (J Rheumatol 1989;16:328-34), with a minimal follow-up after the first clinical presentation of at least 2 yr. The endpoint of patient follow-up was the date of the last clinic visit.

Results: At the end of the follow-up period (median ± SD: 117.3 ± 63.1 months; minimum, maximum: 28-432 months), 69% of patients (29/42) had 1 or more organ involvement.

Esophageal dysmotility and reflux disease was the most prevalent complication, being observed in 43% (18/42) of cases. Pulmonary abnormalities were also common, being found in 38% of patients (16/42). The most frequent lung manifestations were diffuse interstitial lung disease in 24% (10/42) of patients (including 6 cases of nonspecific interstitial pneumonitis, 3 cases of usual interstitial pneumonitis and 1 case of lymphocytic interstitial pneumonia), and pleuritis in 19% (8/42). Other pulmonary complications include primary pulmonary hipertension in 12% of patients (5/42) and shrinking lung syndrome in 2% (1/42).

Neurological disease was observed in 19% (8/42) of patients (including 4 cases of trigeminal neuropathy, 1 with dyskinesias, 1 with sensory peripheral neuropathy, 1 case of intracraneal haemorrhage, and 1 with CNS vasculitis), cardiac involvement in 12% (5/42) (4 cases of pericarditis which was usually mild, and 1 case of myocarditis), and renal involvement in 10% (4/42), (2 mesangial glomerulonephritis [GN], 1 focal proliferative GN, and 1 diffuse proliferative GN).

Conclusion:  MCTD is a well-defined entity with a wide spectrum of clinical manifestations. Long-term follow-up reveal that some patients may have mild self-limited disease, whereas others may develop severe major organ involvement which does not always have a good prognosis

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ACR Meeting Abstracts - https://acrabstracts.org/abstract/prevalence-of-organ-involvement-in-mixed-connective-tissue-disease/