Abstract
Mixed connective tissue disorder is rarely reported in India. It is a disease with overlapping features of many connective tissue disorders and the presence of anti-U1RNP. We present a case with dyspnea and generalized swelling as the initial presentation that led to the diagnosis of mixed connective tissue disorder. A 60-year-old female came with initial complains of progressive dyspnea limiting her daily activities, palpitations, generalized body swelling since 15 days and fever since 1 week. Detailed history and physical examination revealed bluish discoloration of fingers on exposure to low temperature, dysphagia and difficulty opening the mouth and sclerodactyly. Laboratory work-up and radiography concluded the diagnosis of mixed connective tissue disorder. Pulmonary function tests suggested restrictive lung disease and two-dimensional echo showed pulmonary hypertension. Our patient followed both the Alarcon-Segovias criteria and Kasukawa diagnostic criteria for mixed connective tissue disease (MCTD). Pulmonary Hypertension presents late in the illness when other clinical signs are easily recognizable and should be treated aggressively as most deaths in mixed connective tissue disorders are due to heart failure caused by pulmonary arterial hypertension.
Highlights
Mixed connective tissue disorder is rarely reported in India
We present a case with dyspnea and generalized swelling as the initial presentation that led to the diagnosis of mixed connective tissue disorder
Case report: A 60-year-old female came with initial complains of progressive dyspnea limiting her daily activities, palpitations, generalized body swelling since 15 days and fever since one week
Summary
Mixed connective tissue disease (MCTD) is an autoimmune disease which was first described in 1972 by Sharp et al as a disease syndrome with overlapping features of systemic sclerosis, systemic lupus erythematosus (SLE) and polymyositis [1]. No causal association and the varied presentation, makes the diagnosis of this rare condition difficult We encountered one such case with dyspnea and generalized swelling as the initial presentation that eventually led to the diagnosis of MCTD disorder with restrictive lung disease and pulmonary hypertension. Our patient followed the Alarcon-Segovia diagnostic criteria (Table 2) with positive serology and three of the five clinical criteriaâs namely Raynaudâs phenomenon, edema of hands and myositis depicted by high serum CPK value. Our patient followed the Kasukawa diagnostic criteria (Table 3) with both the common symptoms of Raynaudâs and swollen hands being present associated with positive serology and mixed findings of thrombocytopenia, esophageal dysmotility (Figure 4), sclerodactyly and high CPK values. The patient was discharged after 22nd day of hospitalization and is currently on sildenafil citrate 50 mg bid
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