title: Clinical, pathologic, and molecular characterization of familial eosinophilic esophagitis compared with sporadic cases.
abstract: OBJECTIVE
  Eosinophilic esophagitis (EE) occurs in families.
  
  
  METHODS
  Record review confirmed patient kinship and provided clinical information. Slide review confirmed the diagnosis (threshold peak number > or = 24 eosinophils/high-power field).
  
  
  RESULTS
  Fifty-nine members (41 males, 18 females) of 26 families were 3 months to 47 years of age (mean age, 10.3 y) at diagnosis. The only recorded race was Caucasian. In 4 families a parent of an affected male had EE. The most common complaint at diagnosis was dysphagia (68% of patients). Endoscopy showed esophageal mucosal furrows (93% of patients) and exudates (44%). Fifty-one percent had asthma. Skin prick tests to food and aeroallergens were positive in 76% and 71%, respectively. Familial EE characteristics (clinical, endoscopic, pathologic, and global esophageal transcript expression profile analysis) were similar to sporadic EE, except among patients with mucosal furrows: familial patients had lower peak eosinophil counts in the distal esophagus (P = .03) compared with sporadic patients. The basic characteristics of EE (eg, eosinophil levels, rate of atopy) did not vary with patient age. By using genome-wide microarray analysis, no significant differences (P < .05, false-discovery rate) were observed between familial and sporadic EE. Among all patients, chest pain was more common in females (P = .02), and thickened mucosa was more common in males (P = .006).
  
  
  CONCLUSIONS
  These data support a familial pattern of inheritance of EE and a pathogenesis shared with sporadic EE. EE should be considered in symptomatic family members of patients who have EE.
authors.affiliation: Division of Pathology and Laboratory Medicine, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA.
authors.forename: Margaret H
authors.initials: MH
authors.lastname: Collins
authors.forename: Carine
authors.initials: C
authors.lastname: Blanchard
authors.forename: J Pablo
authors.initials: JP
authors.lastname: Abonia
authors.forename: Cassie
authors.initials: C
authors.lastname: Kirby
authors.forename: Rachel
authors.initials: R
authors.lastname: Akers
authors.forename: Ning
authors.initials: N
authors.lastname: Wang
authors.forename: Philip E
authors.initials: PE
authors.lastname: Putnam
authors.forename: Sean C
authors.initials: SC
authors.lastname: Jameson
authors.forename: Amal H
authors.initials: AH
authors.lastname: Assa'ad
authors.forename: Michael R
authors.initials: MR
authors.lastname: Konikoff
authors.forename: Keith F
authors.initials: KF
authors.lastname: Stringer
authors.forename: Marc E
authors.initials: ME
authors.lastname: Rothenberg
mesh_terms: D000293:Adolescent; D000328:Adult; D001249:Asthma; D002648:Child; D002675:Child, Preschool; D003680:Deglutition Disorders / Q000209:etiology; D004804:Eosinophils / Q000276:immunology*; D004941:Esophagitis / Q000235:genetics / Q000276:immunology / Q000473:pathology* / Q000503:physiopathology*; D004945:Esophagoscopy; D005192:Family Health; D005260:Female; D020869:Gene Expression Profiling; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009092:Mucous Membrane / Q000473:pathology; D020411:Oligonucleotide Array Sequence Analysis; D044465:White People