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Background: Mixed connective tissue disease (MCTD) is considered to be uncommon; specifically there is sparse data on MCTD from developing countries like India.
Objectives: This study examines the clinical and serological features of these patients in a single center in North-India.
Methods: This was a retrospective single-center study of patients diagnosed as MCTD in last 20 years. The patients included fulfilled at least one of the diagnostic criteria namely Alarcón-Segovia, Kasukawa, and Kahns. Demographic details, clinical signs and symptoms, laboratory parameters, treatment and outcome were extracted from medical records and clinic files in a pre-designed proforma.
Results: This study included 41 MCTD patients. There was a marked female preponderance (F: M=40:1), and mean age of disease onset and diagnosis was 33.8 ± 10.7 and 39.3 ± 10.2 years. 39 (92%) of the patients fulfilled both Kahn and Kasukawa criteria, while 31 (76%) fulfilled Alarcon-Segovia criteria. Initially patients had been (mis)diagnosed as rheumatoid arthritis, systemic lupus erythematosus (or UCTD) (in five patients each), overlap syndromes or myositis (in 4 patients). ANA was commonly high-titer and specked, U1RNP was positive in all. (
Laboratory features of patients with MCTD
| Labs n (% ) | |
|---|---|
| Leucopenia | 9 (22) |
| Thrombocytopenia | 10 (24) |
| Raised globulins b | 22 (69) |
| Mean globulins, mean (SD) a | 5±3.4 |
| Elevated CPK b | 10 (31) |
| CPK Levels U/L, median (IQR) | 256 (57.5-1036) |
| ANA Speckled Pattern N (%) | 31 d (82) |
| U1RNP N (%) b | 32 (100%) |
| U1RNP Blot Intensity | |
| 1+ | 8 (25%) |
| 2+ | 1 (3.2%) |
| 3+ | 7 (21.8%) |
| 4+ | 16 (50%) |
| U1RNP EIA, mean(SD), n=19 | 141.3 ± 82.4 |
| Raised RF Titers h | 10 (35.7%) |
| Low C3 mg/dl f | 8 (40%) |
| Low C4 mg/dl f | 3 (15%) |
| FVC, mean (SD) n=20 | 82.4 ± 18.9 |
| ILD on HRCT g | 20 (57) |
| Dilated PA on CT f | 10 (50) |
| PAH e on ECHO | 15 (44.1%) |
| RA/RV Dilated | 5 (18) |
SD-standard deviation, IQR- Interquartile range, CPK- Creatinine phosphokinase,, ILD- Interstitial lung disease, PAH- Pulmonary arterial hypertension, ANA- Anti nuclear antibody, IIF- Indirect Immunofluorescence, PA- pulmonary artery, RA/RV- Right atrium/Right Ventricle, a 34 b 32 d 38 e 34 f 20 g 34 h 28
Conclusion: MCTD was not uncommon in the single-center in North India. Kahn and Kasukawa criteria were found to be the most sensitive for its diagnosis. Digital gangrene was relatively common and sometimes the presenting feature; whereas puffy fingers was present in only half the patients.
Disclosure of Interests: None declared