Diagnosing Systemic Sclerosis: Don't Buy the Buerger
Poster #: 059
Session/Time: B
Author:
Rebecca Lee, BA
Mentor:
Matthew Slief, MD
Research Type: Case Report
Abstract
INTRODUCTION:
Limited cutaneous systemic sclerosis (lcSSc), formerly known as CREST syndrome, is a rare autoimmune connective tissue disease characterized by vasculopathy and fibrosis of the skin and internal organs. Its diverse and often subtle symptomatology contributes to frequent diagnostic delays, especially in early stages when treatment limits disease progression.
CASE INFORMATION:
We present the case of a 64-year-old woman whose initial presentation of digital ischemia was misattributed to Buerger's disease for over a decade. Diagnostic momentum persisted despite atypical features and lack of improvement following smoking cessation. Over the years, the patient underwent multiple digital amputations, developed worsening Raynaud's symptoms, significant weight loss secondary to esophageal strictures, pulmonary hypertension and ultimately was diagnosed with lung adenocarcinoma. Only after a hospitalization in 2025 for acute hypoxic respiratory failure secondary to advanced stage pulmonary hypertension and severe tricuspid valve regurgitation did multidisciplinary evaluation reveal classic findings of lcSSc. Her physical exam included taut, shiny skin, reduced oral aperture, and skin calcinosis. Further chart review showed prior x-rays with soft tissue calcification as well as documentation of symptoms suggestive of gastrointestinal dysmotility. These details prompted additional workup and rheumatologic consultation. Serologic testing demonstrated positive ANA (1:640), anti-Scl-70 (>8.0) and anti-centromere (>8.0) antibodies. A high-resolution chest CT scan showed chronic interstitial thickening with peripheral reticulations, consistent with interstitial lung disease. Based upon supporting clinical evidence and positive autoantibodies, the unifying diagnosis of lcSSc with skin, gastrointestinal, and lung involvement was made. Given her clinical condition with significant frailty and active malignancy pending treatment, the risks of initiating immunosuppression were considered too high in the hospital and the patient was advised to follow up with rheumatology outpatient.
DISCUSSION:
Although the majority of Raynaud's phenomenon cases are idiopathic, it is reasonable to start considering secondary causes like Buerger's or lcSSc when clinical manifestations of connective tissue disease arise or when Raynaud's progresses to gangrenes, ulcers, or ultimately amputations. With early diagnosis, screening for internal organ involvement (ie. skin sclerosis, GI symptoms, interstitial lung disease, cardiac involvement, renal crisis, etc) can be initiated. Screening processes are especially important in the context of lcSSc as approximately half of all realized symptoms begin to present within 2 years of Raynaud's manifestation. For this patient, under the initial impression of Buerger's disease, their constellation of symptoms was not recognized as part of a unifying diagnosis. Consequently, care efforts remained centered on smoking cessation, which may have delayed opportunities for earlier detection and intervention. No further evaluation was pursued despite multiple attempts at tobacco cessation, illustrating the dangers of anchoring bias on clinical decision-making.
CONCLUSION:
While Buerger's disease and rheumatologic conditions like lcSSc may both present with Raynaud's phenomenon and ischemic complications, careful evaluation of disease progression and systemic features is crucial for diagnostic accuracy. This case emphasizes the importance of considering Buerger's disease as a diagnosis of exclusion as well as revisiting diagnostic assumptions when clinical trajectories deviate from the expected course. In the case of systemic sclerosis, these practices could enable earlier identification, potentially altering long-term outcomes.
Limited cutaneous systemic sclerosis (lcSSc), formerly known as CREST syndrome, is a rare autoimmune connective tissue disease characterized by vasculopathy and fibrosis of the skin and internal organs. Its diverse and often subtle symptomatology contributes to frequent diagnostic delays, especially in early stages when treatment limits disease progression.
CASE INFORMATION:
We present the case of a 64-year-old woman whose initial presentation of digital ischemia was misattributed to Buerger's disease for over a decade. Diagnostic momentum persisted despite atypical features and lack of improvement following smoking cessation. Over the years, the patient underwent multiple digital amputations, developed worsening Raynaud's symptoms, significant weight loss secondary to esophageal strictures, pulmonary hypertension and ultimately was diagnosed with lung adenocarcinoma. Only after a hospitalization in 2025 for acute hypoxic respiratory failure secondary to advanced stage pulmonary hypertension and severe tricuspid valve regurgitation did multidisciplinary evaluation reveal classic findings of lcSSc. Her physical exam included taut, shiny skin, reduced oral aperture, and skin calcinosis. Further chart review showed prior x-rays with soft tissue calcification as well as documentation of symptoms suggestive of gastrointestinal dysmotility. These details prompted additional workup and rheumatologic consultation. Serologic testing demonstrated positive ANA (1:640), anti-Scl-70 (>8.0) and anti-centromere (>8.0) antibodies. A high-resolution chest CT scan showed chronic interstitial thickening with peripheral reticulations, consistent with interstitial lung disease. Based upon supporting clinical evidence and positive autoantibodies, the unifying diagnosis of lcSSc with skin, gastrointestinal, and lung involvement was made. Given her clinical condition with significant frailty and active malignancy pending treatment, the risks of initiating immunosuppression were considered too high in the hospital and the patient was advised to follow up with rheumatology outpatient.
DISCUSSION:
Although the majority of Raynaud's phenomenon cases are idiopathic, it is reasonable to start considering secondary causes like Buerger's or lcSSc when clinical manifestations of connective tissue disease arise or when Raynaud's progresses to gangrenes, ulcers, or ultimately amputations. With early diagnosis, screening for internal organ involvement (ie. skin sclerosis, GI symptoms, interstitial lung disease, cardiac involvement, renal crisis, etc) can be initiated. Screening processes are especially important in the context of lcSSc as approximately half of all realized symptoms begin to present within 2 years of Raynaud's manifestation. For this patient, under the initial impression of Buerger's disease, their constellation of symptoms was not recognized as part of a unifying diagnosis. Consequently, care efforts remained centered on smoking cessation, which may have delayed opportunities for earlier detection and intervention. No further evaluation was pursued despite multiple attempts at tobacco cessation, illustrating the dangers of anchoring bias on clinical decision-making.
CONCLUSION:
While Buerger's disease and rheumatologic conditions like lcSSc may both present with Raynaud's phenomenon and ischemic complications, careful evaluation of disease progression and systemic features is crucial for diagnostic accuracy. This case emphasizes the importance of considering Buerger's disease as a diagnosis of exclusion as well as revisiting diagnostic assumptions when clinical trajectories deviate from the expected course. In the case of systemic sclerosis, these practices could enable earlier identification, potentially altering long-term outcomes.