Search

Objective: To investigate the prevalence of first-degree relatives (FDRs) with celiac disease detected at screening and diagnostic significance of anti-tissue transglutaminase (anti-TTG)., Patients and Methods: We performed a retrospective cohort study of 104 patients with a diagnosis of celiac disease and their FDRs, collecting data from electronic records of Mayo Clinic and celiac disease registry from December 20, 1983, to May 22, 2017. We collected demographics, presenting symptoms, indication for testing, family history, number of other family members screened, biopsy reports, and results of serologic tests., Results: Of 477 FDRs identified, 360 were screened (mean screening rate per family, 79%±25%) and 160 FDRs (44.4%) were diagnosed with celiac disease, at a mean age 31.9±21.6 years (62% female). All diagnosed FDRs had positive anti-TTG titers. Clinical features were documented in 148 diagnosed FDRs, of those 9 (6%) had classic, 97 (66%) had non-classic symptoms, and 42(28%) had no reported symptoms. Histology reports were available from 155 FDRs: 12 (8%) had Marsh 1, 77 (50%) had Marsh 3a, and 66 (43%) had Marsh 3b. A level of anti-TTG greater than or equal to 2.75 of the upper limit of normal identified FDRs with villous atrophy with 87% sensitivity, 82% specificity, and a positive predictive value of 95%., Conclusion: In a retrospective cohort study of patients diagnosed with celiac disease, we found a high prevalence of celiac disease among screened FDRs. High anti-TTG titers associated with villous atrophy on small bowel biopsies, irrespective of symptoms., (Copyright © 2019 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.)

Objective: To evaluate micronutrient deficiencies in a contemporary cohort of adult patients with newly diagnosed celiac disease (CD)., Patients and Methods: This is a retrospective study of prospective adults newly diagnosed with CD from January 1, 2000, through October 31, 2014, at Mayo Clinic. Micronutrient data were collected for tissue transglutaminase IgA, zinc, 25-hydroxy vitamin D, ferritin, albumin, copper, vitamin B 12 , and serum folate. Data were analyzed for absolute number of deficiencies and associations with age, sex, body mass index, presenting symptoms, and tissue transglutaminase IgA; each deficiency was assessed using logistic regression. Deficiencies were compared with age- and sex-matched controls from the National Health and Nutrition Examination Survey., Results: In total, 309 patients with CD (196 women and 113 men; mean age, 46.1±15.1 years; mean body mass index, 25.9 kg/m 2 ) were included. Weight loss was seen in only 25.2% (78/309) of patients. Zinc was deficient in 59.4% (126/212) of patients with CD compared with 33.2% (205/618) of controls (P<.001). Albumin was low in 19.7% (24/122) compared with 1.1% of controls (P<.001). Copper was low in 6.4% (13/204) compared with 2.1% (13/618) of controls (P=.003). Vitamin B 12 was low in 5.3% (13/244) compared with 1.8% (11/618) of controls (P=.004). Folate was low in 3.6% (6/159) compared with 0.3% (2/618) of controls (P=.002). 25-Hydroxy vitamin D was low in 19.0% (44/213) compared with 18% (111/618) of controls (P=.72). Ferritin was low in 30.8% (66/214) of patients; no NHANES controls were available for comparison for ferritin., Conclusion: Micronutrient deficiencies remain common in adults with CD despite increased nonclassic presentation. This study provides support for micronutrient assessment at the time of CD diagnosis., (Copyright © 2019 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.)