Abstract

Aissulu Kapassova, Gulmira Derbissalina, Dinara Zhunussova,Elmira Kelimberdiyeva, Baurzhan Iskakov.

Abstract The atypical clinical presentation of celiac disease becomes increasingly common in all specialty physician’s daily practice, which requires an awareness of its many clinical faces with non-classic, silent and latent forms. Besides the common genetic background (HLA DQ2/DQ8) of the celiac disease, other non-HLA genes are now notably reported with a probable association to atypical forms [1]. Celiac disease can be difficult to diagnose because it affects to people differently. There are more than 200 known celiac disease symptoms which may occur in the digestive system or other parts of the body. Some people develop celiac disease as a child, others as an adult. And the reason of such presentation is still unknown [2]. Celiac disease is hereditary, meaning that it runs in families. People with a first-degree relative with celiac disease (parent, child, sibling) have a 1 in 10 risk of developing celiac disease [1]. Case report. We report the familial case of atypical celiac disease on an outpatient. The aim of describing this clinical case was to recall the high frequency of association of celiac disease with autoimmune and genetic diseases. Discussion. The variety of non-specific symptoms made it difficult to make a diagnosis. Perhaps the patient’s father had esophageal cancer as a manifestation of a CD complication. Considering the genetic determinant of CD an examination of family members with gastrointestinal symptoms was proposed. This led to CD and a gluten hypersensitivity diagnosis at close relatives. Conclusion. It is also necessary to attract the attention of physicians of different specialties to the clinical peculiarities of celiac disease for timely detection of this disease. We suggest that even in the case of late diagnosis of CD, the patient's «family history» should be built to eliminate atypical celiac disease or gluten hypersensitivity in the patient's family. This will help identify gluten related disorders in a larger population.