Unexplained fever, weight loss, and worsened dyspnea with pulmonary hypertension as the presenting symptoms of mixed connective tissue disease with interstitial lung disease: A case report with review of literature

Pulmonary manifestations of mixed connective tissue disease (MCTD) include as bronchiolitis, bronchiectasis, and interstitial lung disease with or without pulmonary hypertension. Tuberculosis (TB) is the most common diagnosis in India in the presence of constitutional symptoms such as cough, fever, and weight loss with lung parenchymal abnormality, irrespective of microscopic or nucleic acid amplification test abnormalities due to high tuberculosis prevalent tropical setting. In this case report, a 35 year old female presented with constitutional symptoms and lung parenchymal nodules, interstitial involvement with lung fibrosis and pulmonary hypertension. Mediastinal window documented necrotic mediastinal lymph nodes, without negative mycobacterial microscopic (smear examination) or genome documentation (Gene Xpert MTB/RIF). She had received empirical anti tuberculosis treatment for three months without clinical or radiological response, resulted in progression of disease with clinical and radiological worsening and referred to our unit for further workup. Bronchoscopy guided evaluation for tropical screen including bacterial, fungal and tuberculosis with malignancy was inconclusive. Vasculitis and CTD workup documented antinuclear antibody (ANA) test strongly positive with very highly raised titres, with positive antigen as U1 small nuclear ribonucleoprotein particle, SSA/RO, single strand DNA, and Scl 70. Treatment initiated with systemic steroids, tadalafil, mycophenolate and diuretics, and satisfactory clinical response documented as near complete resolution of pulmonary parenchymal abnormalities in 24 weeks and pulmonary hypertension in 12 weeks. Pulmonary manifestations of MCTD are common, underestimated in the presence of constitutional symptoms, and early pickup of entity in course of illness will have good outcome with excellent prognosis.