What does not look like celiac disease and instead it is.

Area of Science:

• Gastroenterology and Immunology
• Human Genetics

Background:

• Celiac disease (CD) diagnosis is often challenging, necessitating multidisciplinary collaboration.
• Genetic predisposition to CD is primarily linked to HLA-DQ2 and/or HLA-DQ8.
• Non-HLA genes and other HLA haplotypes can also influence CD susceptibility.

Observation:

• A 42-year-old female with a history of Hodgkin lymphoma presented with symptoms suggestive of CD.
• Standard CD antibody tests (anti-transglutaminase and anti-endomysium) were negative.
• Genetic testing revealed positivity for the HLA-DQ7 haplotype.

Findings:

• The HLA-DQ7 haplotype may represent an independent risk factor for celiac disease.
• This case demonstrates that HLA-DQ7 can be associated with CD even in the absence of typical autoantibodies.
• Complex genetic interactions beyond HLA-DQ2/DQ8 are relevant in celiac disease pathogenesis.

Implications:

• The findings suggest that HLA-DQ7 testing could be valuable in diagnosing celiac disease, particularly in antibody-negative cases.
• This case underscores the importance of considering a broader range of genetic factors in celiac disease diagnosis.
• Further research into the role of HLA-DQ7 in celiac disease is warranted to refine diagnostic algorithms.