Celiac Disease (CD) is a multifactorial gluten sensitive enteropathy associated with genetic and environmental risk factors. Family history is one of the risk factors for CD susceptibility. We expect to have 7.1% of transmission in the first-degree relatives of patients with celiac, however there are some families with a high CD penetration rate among family members. Therefore, we assessed the importance of specific symptom or clinical presentation in high penetration rate and risk stratification for screening.

Forty-four patients from 15 CD families with high and low penetrations in the first degree relatives(FDR) and second degree relatives (SDR) were included in our study. In low penetration group or control group we included, patients with CD without a positive familial history in FDR and SDR. Patients were categorized to high penetration (more than 70%) in FDR, intermediate penetration (50-70%) in FDR, and control group of CD who were patients with low penetration (less than 25%) or just one case without any familial affected member. Informed consents forms which were approved by the ethic committee of Mashhad university of Medical Sciences were obtained from the patients.

In patients with high penetration rate, 46% were diagnosed by classic presentation and 26% by non-classical presentation and 16% by screening. In control group with low penetration, 25% were diagnosed by classical and 75% by non-classical presentations (P=0.06). There was no significant difference between presentation in these 3 groups(p=0.064), but if we categorized the patients into two groups including; more than 50% and less than 25 % penetration rates, there was a significant difference between classical presentation (P=0.02). There were not and significant differences between anemia, flatulence, aphtous, and diarrhea in two groups.

Classical presentation is common presentation of celiac in FDR of patients