Clinical, pathologic, and molecular characterization of familial eosinophilic esophagitis compared with sporadic cases.
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.
Collins
Margaret H
MH
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.
Blanchard
Carine
C
Abonia
J Pablo
JP
Kirby
Cassie
C
Akers
Rachel
R
Wang
Ning
N
Putnam
Philip E
PE
Jameson
Sean C
SC
Assa'ad
Amal H
AH
Konikoff
Michael R
MR
Stringer
Keith F
KF
Rothenberg
Marc E
ME
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