Progressive Systemic Sclerosis With Negative Antinuclear Antibodies and Absence of Raynaud's Phenomenon: A Case Report and Literature Review.

Systemic sclerosis (SSc) is typically characterized by positive antinuclear antibodies (ANA) and Raynaud's phenomenon (RP). We present the case of a male patient with progressive diffuse skin tightening, interstitial lung disease (ILD), pericardial tamponade, renal failure, and gastrointestinal dysmotility who was diagnosed with severe, rapidly progressive SSc despite negative ANA, absent RP, and a negative malignancy workup. The patient's clinical course was complicated by scleroderma renal crisis (SRC) requiring dialysis and eventual kidney transplantation. He also had severe gastrointestinal dysmotility requiring gastrostomy tube placement and total parenteral nutrition. Multiple agents were required for treatment, including mycophenolate mofetil (MMF) and rituximab. The patient eventually had improvement in his skin fibrosis and has been doing well in follow-up after kidney transplantation. Treatment of SSc can be challenging given the heterogeneity of the disease, and recognition of this subset of SSc patients is needed to help prevent early mortality among them.

Systemic sclerosis associated interstitial lung disease: a conceptual framework for subclinical, clinical and progressive disease.

OBJECTIVES: To establish a framework by which experts define disease subsets in systemic sclerosis associated interstitial lung disease (SSc-ILD). METHODS: A conceptual framework for subclinical, clinical and progressive ILD was provided to 83 experts, asking them to use the framework and classify actual SSc-ILD patients. Each patient profile was designed to be classified by at least four experts in terms of severity and risk of progression at baseline; progression was based on 1-year follow-up data. A consensus was reached if ≥75% of experts agreed. Experts provided information on which items were important in determining classification. RESULTS: Forty-four experts (53%) completed the survey. Consensus was achieved on the dimensions of severity (75%, 60 of 80 profiles), risk of progression (71%, 57 of 80 profiles) and progressive ILD (60%, 24 of 40 profiles). For profiles achieving consensus, most were classified as clinical ILD (92%), low risk (54%) and stable (71%). Severity and disease progression overlapped in terms of framework items that were most influential in classifying patients (forced vital capacity, extent of lung involvement on high resolution chest CT [HRCT]); risk of progression was influenced primarily by disease duration. CONCLUSIONS: Using our proposed conceptual framework, international experts were able to achieve a consensus on classifying SSc-ILD patients along the dimensions of disease severity, risk of progression and progression over time. Experts rely on similar items when classifying disease severity and progression: a combination of spirometry and gas exchange and quantitative HRCT.

Detection and Monitoring of Interstitial Lung Disease in Patients with Systemic Sclerosis.

PURPOSE OF REVIEW: Interstitial lung disease (ILD) is a common manifestation of systemic sclerosis (SSc). We explore the importance of early detection, monitoring, and management of SSc-ILD. RECENT FINDINGS: All patients with SSc are at risk of ILD and should be screened for ILD at diagnosis using a high-resolution computed tomography (HRCT) scan. Some patients with SSc-ILD develop a progressive phenotype characterized by worsening fibrosis on HRCT, decline in lung function, and early mortality. To evaluate progression and inform treatment decisions, regular monitoring is important and should include pulmonary function testing, evaluation of symptoms and quality of life, and, where indicated, repeat HRCT. Multidisciplinary discussion enables comprehensive evaluation of the available information and its implications for management. The first-line treatment for SSc-ILD is usually immunosuppression. The antifibrotic drug nintedanib has been approved for slowing lung function decline in patients with SSc-ILD. Optimal management of patients with SSc-ILD requires a multidisciplinary and patient-centered approach.

A Unique Presentation of Anti-RNA Polymerase III Positive Systemic Sclerosis Sine Scleroderma.

Systemic sclerosis is a rare autoimmune disorder with a wide spectrum of clinical manifestations and a multitude of autoantibodies that are associated with it. In the past several years, advances in serologic testing have led to research indicating important prognostic and phenotypic associations with certain subsets of autoantibodies. In particular, anti-RNA polymerase III (anti-RNAP III) has been associated with diffuse cutaneous disease, scleroderma renal crisis, a temporal relationship with malignancy, myositis, synovitis, joint contractures, and gastric antral vascular ectasia. However, anti-RNAP III has not been associated with systemic sclerosis sine scleroderma. We describe a patient with an atypical presentation of anti-RNAP III positive systemic sclerosis sine scleroderma who presented without the typical features of anti-RNAP III disease. Instead, she presented with critical digital ischemia, pulmonary arterial hypertension, gastroesophageal reflux disease, interstitial lung disease, and no clinically detectable sclerodactyly.