SHM Converge Scientific Abstract ePoster Gallery-The Case of Negative Ana: Diagnosis of Seronegative Systemic Sclerosis

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This case report describes a 62-year-old woman with heart failure who presented with progressive shortness of breath, edema, early satiety, severe weight loss, dry eyes and mouth, and cold sensitivity. Her exam revealed skin thickening of the hands, arms, and chest with hyperpigmentation of the dorsal surfaces. Initial testing was unrevealing for common autoimmune markers, including a negative ANA and negative Scl-70, which delayed recognition of her condition.<br /><br />Further workup showed bilateral pleural effusions, a restrictive pattern on pulmonary function testing, esophageal dysmotility with aperistalsis and symmetric narrowing on esophagram, anemia, mildly reduced renal function, and no interstitial lung disease. Fat pad biopsy was negative for amyloid, while skin biopsy demonstrated sclerosing dermatitis, supporting the diagnosis of systemic sclerosis.<br /><br />The report emphasizes that systemic sclerosis is usually associated with Raynaud’s phenomenon, present in about 95% of cases, and ANA positivity, present in about 90%. When either is absent, diagnosis may be delayed. Seronegative systemic sclerosis can still present with skin thickening and multisystem involvement, including pulmonary and gastrointestinal symptoms. The authors also note that absence of Raynaud’s has been linked in some cases to underlying malignancy as part of a paraneoplastic syndrome, though this was not found in this patient.<br /><br />The key takeaway is that complex, multifocal symptoms in patients with multiple comorbidities can obscure systemic sclerosis. Clinicians should maintain a broad differential and pursue early multidisciplinary evaluation to reduce diagnostic delay and disease-related morbidity.

Asset Subtitle

Sandeep Tummala

Meta Tag

Author List Meytal B. Chernoff, Sandeep Tummala

Category Clinical Vignettes

Concept Diffuse Systemic Sclerosis

Concept Skin Thickening

Concept Raynaud Disease

Concept Seronegative Systemic Sclerosis

Concept Gastrointestinal Dysmotility

Distinguished Non-Finalist

Presenter Organization The University of Chicago Medicine

Presenter Organization Hospital Medicine

Presenting Author Sandeep Tummala

Track Adult

Keywords

systemic sclerosis

seronegative

heart failure

skin thickening

Raynaud phenomenon

ANA negative

esophageal dysmotility

pleural effusion

restrictive lung disease

multisystem involvement

Diffuse Systemic Sclerosis

Skin Thickening

Raynaud Disease

Seronegative Systemic Sclerosis

Gastrointestinal Dysmotility