Genetically determined coeliac disease in three family members.
The work presents 3 members of a family of 4, who were diagnosed to have coeliac disease (one classic and two latent forms of the disease). Genetic investigation regarding all three patients revealed the existence of HLA DQ A1*0501 allele associated with susceptibility to coeliac disease. Due to a much more frequent occurrence of atypical forms of coeliac disease in family members, than in general population, and due to risks resulting from tardy diagnoses and the lack of treatment, it is recommended that patients should be subjected to tests determining the presence of antiendomysial antibodies, as well as to genetic investigation with regards to latent coeliac disease.
Szaflarska-Szczepanik
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Department of Pediatrics, Allergology and Gastroenterology, Medical University, ul. Uiejskiego 75, 85-168 Bydgoszcz, Poland.
Miścicka-Sliwka
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D000293:Adolescent; D000328:Adult; D000483:Alleles; D002446:Celiac Disease / Q000175:diagnosis / Q000178:diet therapy / Q000235:genetics* / Q000276:immunology; D002648:Child; D005260:Female; D005983:Glutens / Q000008:administration & dosage; D006683:HLA-DQ Antigens / Q000235:genetics; D059848:HLA-DQ alpha-Chains; D006801:Humans; D007070:Immunoglobulin A / Q000097:blood; D007413:Intestinal Mucosa / Q000473:pathology; D008297:Male; D010375:Pedigree
D006683:HLA-DQ Antigens; D059848:HLA-DQ alpha-Chains; C069050:HLA-DQA1 antigen; D007070:Immunoglobulin A; D005983:Glutens