Chronic dyspnea with Raynaud’s phenomenon and elevated ANA: A diagnosis of systemic sclerosis sine scleroderma

Introduction

Patients with interstitial lung disease (ILD) generally seek medical attention due to respiratory symptoms of dyspnea, cough, or abnormal chest imaging performed for an alternative reason. ILD commonly presents in the context of an established connective tissue disease (CTD) but can be the first or only manifestation of an occult CTD. ILD can even occur in patients with features suggestive of a CTD but not meeting any diagnostic criteria for a specific CTD known as interstitial pneumonia with autoimmune features (IPAF).

Therefore, a comprehensive history and clinical examination, as well as ancillary investigations involving autoantibodies, pulmonary function test (PFT), and high-resolution computed tomography (CT) chest, are essential. It is estimated that around 15-19% of patients who presents clinically with ILD have, or will develop, a specific CTD which is indistinguishable from those with idiopathic ILD. ^{, ,} Systemic sclerosis (SSc) is a systemic inflammatory connective tissue disorder characterized by abnormal fibrosis of the skin, microvasculature, and visceral organs. ^{, ,} SSc can be divided into diffuse cutaneous systemic sclerosis (dcSSc) with widespread skin thickening, limited cutaneous systemic sclerosis (lcSSc) with skin thickening limited to distal extremities/face, and systemic sclerosis sine scleroderma (ssSSc). ^, The diagnosis of ssSSc requires the absence of classical skin thickening and the presence of (A) Raynaud’s phenomenon or the equivalent of abnormal nail fold capillaries; (B) positive antinuclear antibody (ANA), typically with nucleolar or speckled immunofluorescence pattern; and (C) at least one internal organ involvement of ILD, renal dysfunction, esophageal/bowel dysmotility or pulmonary arterial hypertension (PAH); in the absence of an alternative CTD diagnosis ( Table 1 ). SSc affects females more than males by a ratio of three to one. ^{, ,} We present a case of a 58-year-old woman presenting with chronic dyspnea, a positive review of systems for Raynaud’s phenomenon, and found to have elevated nucleolar immunofluorescence pattern of ANA with chest imaging consistent with the diagnosis of ssSSc-associated interstitial lung disease (ssSSc-ILD).