Morphea in Adults and Children Cohort III

Abstract

IMPORTANCE Small studies have implicated the association of specific autoantibodies with morphea subtype or severity, but no large-scale studies have been conducted. This prospective case-control study confirmed the presence of antinuclear antibodies (ANAs) and other autoantibodies in morphea but found they are of limited significance. OBJECTIVE To determine the prevalence of ANAs, extractable nuclear antigens such as antihistone antibodies (AHAs), and anti–single-stranded DNA antibodies (ssDNA abs) in patients with morphea vs a healthy control population and their association with clinical measures of morphea severity. DESIGN, SETTING, AND PARTICIPANTS Nested case-control study, conducted at the University of Texas Southwestern Medical Center, Dallas, and University of Texas Health Science Center, Houston. Study participants included individuals enrolled in the Morphea in Adults and Children (MAC) cohort and Scleroderma Family Registry and DNA Repository. MAIN OUTCOMES AND MEASURES Prevalence of ANAs, AHAs, ssDNA abs in patients with morphea vs matched controls and association of the presence of autoantibodies with clinical indicators of morphea severity. RESULTS The prevalence of ANAs, AHAs, and ssDNA abs in patients with morphea was 34%, 12%, and 8%, respectively. Antinuclear antibodies and AHAs, but not ssDNA abs, were present more frequently in cases than in controls. There was no difference in ANA prevalence among morphea subtypes. Among patients with linear morphea, the presence of autoantibodies was associated with clinical indicators of severe morphea including functional limitation (ssDNA ab, P = .005; and AHA, P = .006), extensive body surface area involvement (ssDNA ab, P = .01; and ANA, P = .005), and higher skin scores (ANA, P = .004). The presence of autoantibodies was not associated with clinical measures of morphea activity. CONCLUSIONS AND RELEVANCE Our results demonstrate that ANAs and AHAs are more prevalent among patients with morphea but are of limited clinical utility except in linear morphea, where their presence, although infrequent, is associated with greater lesion burden and functional impairment.

Major Histocompatibility Complex Class I and Class II Alleles May Confer Susceptibility to or Protection Against Morphea: Findings From the Morphea in Adults and Children Cohort

“…Morphea patients enrolled in the MAC cohort were tested for numerous autoantibodies (extractable nuclear antigens, anti-histone antibodies, anti-ssDNA antibodies, and the like), but they were present so infrequently that analysis was not feasible (anti-ssDNA n=13, anti-histone n=24). The details of these studies were previously published (6). The results of HLA class I and II association analyses in ANA negative and positive patients did not reveal any associations with the presence or absence of ANA.…”

“…Studies to date implicate that morphea is an immunologically mediated disease due to its association with other autoimmune disorders (2, 3) and the presence of autoantibodies including ANA (4–6) with greater frequency than expected in comparison to a healthy population. Further, studies examining the histopathological changes in morphea have identified an inflammatory cell infiltrate composed of T and B lymphocytes, plasma cells, and plasmacytoid dendritic cells (7).…”

Multiparametric autoantibody profiling of patients with systemic sclerosis in Greece

“…Our data are comparable to previous study showing an infrequent/rare detection of SSc related abs in patients with morphea. 31 Nevertheless, meticulous assessment of such abs needs to be performed in a large, most likely multicenter, study. In respect to anti-Ro52 Abs, an increasing number of recent studies reports a high frequency of these autoAbs in SSc, but their clinical relevance remains uncertain, as most studies fail to identify clinical usefulness attained by this autoAb.…”

Comparison of Outcomes in Adults With Pediatric‐Onset Morphea and Those With Adult‐Onset Morphea: A Cross‐Sectional Study From the Morphea in Adults and Children Cohort

“…Autoantibody testing for antinuclear antibodies (ANA) was performed in a single laboratory by a single investigator (Frank Arnett). The details of the methods for immunofluorescence testing for ANA are available in a prior publication (13). All patients in the MAC cohort who had a clinical registry visit at age 17 or older were included in the study.…”