Tag Archives: first-degree relatives

Celiac Risk Among First-Degree Relatives of Index Case

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S Karimzadhagh, et al. The American Journal of Gastroenterology 2025; 120(7):p 1488-1501. Global Prevalence and Clinical Manifestations of Celiac Disease Among First-Degree Relatives: A Systematic Review and Meta-Analysis

Methods: Of 8,764 studies screened, 34 studies involving 10,016 first-degree relatives (FDRs) of patients with Celiac Disease (CeD) were included

Key findings:

  • The pooled estimates for seroprevalence and the biopsy-confirmed CeD prevalence in FDRs were 11% and 7%, respectively
  • Daughters and sisters had the highest prevalence rates at 23% and 14%, compared with sons and brothers at 6% and 9%, respectively. Mothers/fathers prevalence rates were 5%. It is noted, however, that the stud only included 32 daughters and 41 sons, making these estimates less reliable
  • Abdominal pain (42%), bloating (39%), and flatulence (38%) were the most common gastrointestinal symptoms, while 34% of FDRs with CeD were asymptomatic

Discussion points:

Discrepancy between serology and biopsy: “First, not all individuals who tested positive through serological screening underwent a confirmatory duodenal biopsy. Second, some individuals with positive anti-tTG Ab may have false-positive results, or the disease process is still in the early stages of the disease, where intestinal damage is not yet detectable. This highlights that relying solely on serological screening without follow-up evaluations and intestinal biopsy can lead to overestimating the true prevalence of CeD.”

Limitations: “Some included studies only screened the siblings of indexed patients with CeD. For example, one study reported a prevalence of 22% among siblings. Given that genetic factors play a pivotal role in the pathogenesis of CeD and that the prevalence of CeD among siblings is often higher than that of other FDRs, this selective screening approach could potentially introduce selection bias into the overall prevalence of CeD in FDRs.”

My take: This study supports routine screening of first-degree relatives of patients with Celiac Disease, especially as many are asymptomatic.

Related blog posts:

New Biomarker for Crohn’s Disease (Plus Two)

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A recent study identifies a new biomarker for Crohn’s disease (CD) (Inflamm Bowel Dis 2014; 20: 1037-48).

The authors examined a cohort of 208 newly diagnosed pediatric CD and 43 non-IBD controls for ileal/rectal expression of FcγRIA mRNA.  In addition, in a smaller cohort of 26 newly diagnosed CD patients, 83 established CD patients and 30 non-IBD controls the authors measured peripheral blood polymorphonuclear neutrophil (PMN) CD64 index.

Key findings:

  • Ileal FcγRIA mRNA expression was significantly elevated in CD compared with non-IBD controls
  • PMN CD64 was significantly elevated in CD compared with non-IBD controls and correlated with mucosal injury as measured by the simple endoscopic score for CD.
  • Patients in clinical remission with a PMN CD64 <1 had a high rate of sustained remission (95%) whereas only 56% had sustained remission if PMN CD64 was >1.

Take-home point: This study shows in pediatrics, as in adults IBD patients, that PMN CD64 index is associated with mucosal inflammation; high levels are associated with clinical relapse.  Serum biomarkers are likely to complement stool biomarkers like fecal calprotectin.

One other point the authors make: “studies have found that 57% to 59% of CD have concurrent IBS.”  Thus, there is a need for biomarkers to distinguish whether patients with clinical symptoms are experiencing an inflammatory relapse.

Related blog post: Calprotectin: Part of diagnostic algorithm for IBD …

Two other studies in same issue:

“Alterations in the Intestinal Microbiome (Dysbiosis) as a Predictor of Relapse After Infliximab Withdrawal in Crohn’s disease” pages 978-86.  N=33 CD patients. Key finding: “CD-associated dysbiosis, characterized by a decrease in Firmicutes, correlates with the time-to-relapse after infliximab withdrawal.”

“Tissue Studies in Screened First-degree Relatives Reveal a Distinct Crohn’s Disease Phenotype” pages 1049-56. N=38 asymptomatic relatives. Key finding: based on histologic scoring 61% were normal, 26% had minor lesions, and 13% had evidence of active disease. This study indicates that screening relatives may identify a subset with early biologic disease.