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Clinical Characteristics and Associated Systemic Diseases in Patients With Esophageal "Absent Contractility"-A
Sobia Laique1, Tavankit Singh2, David Dornblaser3
1Department of Internal Medicine, Cleveland Clinic.
Insights
Absent contractility on esophageal manometry is often misattributed solely to scleroderma. This study found only 63% of patients had SSc, highlighting the need for broader etiologic evaluation in esophageal motility disorders.
Area of Science:
- Gastroenterology
- Esophageal Motility Disorders
- Autoimmune Diseases
Background:
- High-resolution esophageal manometry redefined esophageal motility disorders per Chicago Classification v3.0.
- Absent contractility is historically linked to myopathic processes like systemic sclerosis (SSc).
- Limited research exists specifically on the etiologies of absent contractility.
Purpose of the Study:
- To investigate the clinical characteristics of patients with absent contractility.
- To identify associated systemic diseases in patients diagnosed with absent contractility.
- To propose a diagnostic algorithm for the etiologic testing of absent contractility.
Main Methods:
- Retrospective, multicenter study.
- Data collected from 207 patients diagnosed with absent contractility.
- Included patient demographics, medical history, and specific antibody testing.
Main Results:
- Systemic sclerosis (SSc) was present in 63% of patients.
- 20% of patients had other systemic autoimmune rheumatologic diseases.
- 16% of patients had nonrheumatologic causes for absent contractility.
Conclusions:
- Absent contractility is frequently misdiagnosed as solely scleroderma esophagus.
- A significant proportion of patients have alternative systemic or nonrheumatologic etiologies.
- A structured diagnostic algorithm is proposed for comprehensive etiologic evaluation.
Goals:
This study was carried out to assess the clinical characteristics and associated systemic diseases seen in patients diagnosed with absent contractility as per the Chicago Classification version 3.0, allowing us to propose a diagnostic algorithm for their etiologic testing.
Background:
The Chicago Classification version 3.0 has redefined major and minor esophageal motility disorders using high-resolution esophageal manometry. There is a dearth of publications based on research on absent contractility, which historically has been associated with myopathic processes such as systemic sclerosis (SSc).
Study:
We conducted a retrospective, multicenter study. Data of patients diagnosed with absent contractility were pooled from Cleveland Clinic, Cleveland, OH (January 2006 to July 2016) and Metrohealth Medical Center, Cleveland, OH (July 2014 to July 2016) and included: age, gender, associated medical conditions, surgical history, medications, and specific antibody testing.
Results:
A total of 207 patients, including 57 male individuals and 150 female individuals, with mean age of 56.1 and 60.0 years, respectively, were included. Disease distribution was as follows: SSc (diffuse or limited cutaneous) 132, overlap syndromes 7, systemic lupus erythematosus17, Sjögren syndrome 4, polymyositis 3, and dermatomyositis 3. Various other etiologies including gastroesophageal reflux disease, postradiation esophagitis, neuromuscular disorders, and surgical complications were seen in the remaining cohort.
Conclusions:
Most practitioners use the term "absent contractility" interchangeably with "scleroderma esophagus"; however, only 63% of patients with absent contractility had SSc. Overall, 20% had another systemic autoimmune rheumatologic disease and 16% had a nonrheumatologic etiology for absent contractility. Therefore, alternate diagnosis must be sought in these patients. We propose an algorithm for their etiologic evaluation.
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