Prevalence and Clinical Picture of Celiac Disease in Turner Syndrome

Abstract

A multicenter study of Turner syndrome (TS) patients was carried out to estimate the prevalence of celiac disease (CD) and to detect clinical characteristics and laboratory data of affected patients. Three hundred eighty-nine girls with TS were screened by IgA antigliadin antibodies and/or antiendomysial antibodies. Intestinal biopsy was offered to positive cases. CD was diagnosed in 25 patients. In celiac subjects, anemia, anorexia, and delayed growth (with respect to Italian TS curves) were frequently present; whereas distended abdomen, chronic diarrhea, constipation, and vomiting occurred more rarely. In addition, low serum iron levels, hemoglobinemia, and high values of aminotransferases were observed. Ten patients showed classic CD, 8 showed atypical symptoms, and 7 showed a silent CD. In 11 symptomatic patients, the diagnosis of CD was made at the onset of symptoms, whereas 7 of them showed a median delay of 79 months in diagnosis. Other autoimmune disorders were observed in 40% of the patients. Our study confirms the high prevalence (6.4%) of CD in a large series of TS patients. Moreover, the subclinical picture in 60% of the cases, the diagnostic delay, and the incidence of other autoimmune disorders suggest that routine screening of CD in TS is indicated.

Searching for genes influencing a complex disease: the case of coeliac disease

“…A higher prevalence of CD is found also among girls with Turner's syndrome 28 and children with Down's syndrome. 29 …”

Celiac Disease: Pathophysiology, Clinical Manifestations, and Associated Autoimmune Conditions

“…Given the background prevalence of celiac disease of 1:100, there are populations that are at an increased risk for disease, including patients with type 1 diabetes (26), autoimmune thyroid disease (both hyper-and hypothyroidism) (27,28), relatives of patients with celiac disease (3) and type 1 diabetes and patients with Turner (29,30) and Down syndromes (31). Rates of celiac disease in these populations range from 5-10%.…”

“…Celiac disease related antibodies have been identified in between 4-6% of girls with Turner Syndrome, the diagnosis of celiac disease can be made as early as 4 years of age (30,29). Recently published clinical practice guidelines for the care of girls with Turner syndrome recommend screening for celiac disease beginning at age 4 with measurement of TG autoantibodies.…”

Serological screening for coeliac disease in adults with Turner's syndrome: prevalence and clinical significance of endomysium antibody positivity

“…It has long been recognized that there is an increased incidence of autoimmune disorders in TS (1), with hypothyroidism being the most common. Many studies have reported an increased prevalence of coeliac disease (CD) in TS (2)(3)(4)(5)(6)(7)(8)(9), with prevalences reported of 0-8.1%, compared with 0.5-1.0% in the general population, based on serological screening (10).…”