Document Detail

Clinical, pathologic, and molecular characterization of familial eosinophilic esophagitis compared with sporadic cases.
MedLine Citation:
PMID:  18434257     Owner:  NLM     Status:  MEDLINE    
BACKGROUND & AIMS: 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.
Margaret H Collins; Carine Blanchard; J Pablo Abonia; Cassie Kirby; Rachel Akers; Ning Wang; Philip E Putnam; Sean C Jameson; Amal H Assa'ad; Michael R Konikoff; Keith F Stringer; Marc E Rothenberg
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't     Date:  2008-04-22
Journal Detail:
Title:  Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association     Volume:  6     ISSN:  1542-7714     ISO Abbreviation:  Clin. Gastroenterol. Hepatol.     Publication Date:  2008 Jun 
Date Detail:
Created Date:  2008-06-13     Completed Date:  2008-08-12     Revised Date:  2014-09-24    
Medline Journal Info:
Nlm Unique ID:  101160775     Medline TA:  Clin Gastroenterol Hepatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  621-9     Citation Subset:  IM    
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MeSH Terms
Child, Preschool
Deglutition Disorders / etiology
Eosinophils / immunology*
Esophagitis / genetics,  immunology,  pathology*,  physiopathology*
European Continental Ancestry Group
Family Health*
Gene Expression Profiling
Middle Aged
Mucous Membrane / pathology
Oligonucleotide Array Sequence Analysis
Grant Support
U19 AI070235/AI/NIAID NIH HHS; U19 AI070235/AI/NIAID NIH HHS; U19 AI070235-010002/AI/NIAID NIH HHS; U19 AI070235-020002/AI/NIAID NIH HHS; U19 AI070235-030002/AI/NIAID NIH HHS
Comment In:
Clin Gastroenterol Hepatol. 2008 Nov;6(11):1283; author reply 1283   [PMID:  18995220 ]

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