ESPE Abstracts (2016) 86 P-P1-698

Clusters of Autoinmune Diseases in Children

Cristian Seiltgens, Mirentxu Iruretagoyena, Patricia Melendez, Maria Jesus Ponce, Eduardo Talesnik, Cecilia Mendez, Claudia Godoy, Alejandro Martinez-Aguayo, Isabel Hogdson, Paul Harris, Juan Carlos Gana, Francisca Riera, Hernan Garcia, Andreina Cattani & Arturo Borzutzky


Pontificia Universidad Catolica De Chile, Santiago, Chile


Background: Autoimmune diseases (AIDs) have familial aggregation and frequently share a common genetic background, but few studies have evaluated autoimmune clusters in children with AIDs and their families.

Objective and hypotheses: To identify clusters of AIDs in children and their first-degree relatives.

Method: A cross-sectional study was performed in subjects with an AID of pediatric onset (<18 years) recruited at Pediatric Endocrinology, Rheumatology, and Gastroenterology Clinics at the Health Network of the Pontificia Universidad Católica de Chile School of Medicine. Clusters of AIDs were identified by K-means cluster analysis.

Results: 191 subjects with pediatric AIDs were included, of which 45 (24%) had polyautoimmunity. Mean age was 12.1 years (range 1–19) and 68% were female. Most frequent AIDs were JIA (36%), AITD (25%), T1D (19%), uveitis (8%), celiac disease (6%), and vitiligo (6%). 59% of subjects with pediatric autoimmunity had first-degree relatives with an AID. Five clusters of AID were identified in families of children with autoimmunity (Table 1). Among the 45 subjects with pediatric polyautoimmunity, four clusters of AIDs were identified (Table 2).

Table 1. Clusters of autoimmune diseases among children with autoimmunity and their first-degree relatives.
ClusterNumber of casesAutoimmune diseases (Descending order of relevance)
194Juvenile idiopathic arthritis
Connective tissue diseases
Autoimmune thyroid disease
229Juvenile idiopathic arthritis
Psoriasis
Autoimmune thyroid disease
331Type 1 diabetes
Autoimmune thyroid disease
Celiac disease
Psoriasis
425Autoimmune thyroid disease
Type 1 diabetes
Vitiligo
Connective tissue diseases
510Celiac disease
Autoimmune thyroid disease
Type 1 diabetes
Autoimmune hepatitis
Juvenile idiopathic arthritis
Table 2. Clusters of autoimmune diseases among children with pediatric polyautoimmunity.
ClusterNumber of casesAutoimmune diseases (Descending order of relevance)
14Connective tissue diseases
Autoimmune thyroid disease
Juvenile idiopathic arthritis
211Type 1 diabetes
Autoimmune thyroid disease
Celiac disease
Inflammatory bowel disease
Immune thrombocytopenic purpura
310Autoimmune thyroid disease
Vitiligo
Juvenile idiopathic arthritis
Celiac disease
Scleroderma
418Juvenile idiopathic arthritis
Uveitis
Psoriasis
Vitiligo
Alopecia Areata
Autoimmune Hepatitis

Conclusion: AIDs in affected children and their families may be grouped into well-defined clusters suggesting a common etiopathogenesis among diseases grouped in each cluster.