Clinical presentation and incidence of complications in patients with coeliac disease diagnosed by relative screening

Abstract

Background: There is an increased prevalence of coeliac disease (CD) among relatives of those with the disease. Aims: To compare the clinical features in patients with CD detected via family screening with those in patients diagnosed routinely. Methods: Information on screening was provided to relatives of patients. Those who wished to be screened were tested for endomysial and/or tissue transglutaminase antibodies. Duodenal biopsy was performed in those with positive antibodies. The clinical details of the relative screening group were compared with those of 105 patients diagnosed routinely. Results: 183 relatives underwent screening, of whom 32 had positive serology, 24 had histology diagnostic of CD, six had normal biopsies and two declined duodenal biopsy. Patients in the relative screening group were younger with a median age of 33 years (range 17-72 years) compared to the routine group which had a median age of 54 years (range 25-88 years). In the relative screening group, there was a male preponderance (M:F ratio 16:8), anaemia at presentation was significantly less common (13% v 58%; p,0.001) and osteoporosis was less frequent (9% v 22%; p,0.244) compared with the routine group. 65% of the relative screening group had gastrointestinal symptoms or anaemia at diagnosis. Conclusions: Patients detected by family screening are younger with a male preponderance, but fewer had anaemia and osteoporosis.

Risk of Celiac Disease in the First- and Second-Degree Relatives of Patients With Celiac Disease: A Systematic Review and Meta-Analysis

“…Full text of the study by Korponay-Szabo et al ( 19 ) could not be obtained despite our eff orts to contact the authors and suffi cient information could not be obtained from the abstract. One study was excluded based on exclusion criteria and 10 other studies were further excluded as they did not meet the quality assessment criteria to be included in our meta-analysis as described above ( 10,(20)(21)(22)(23)(24)(25)(26)(27)(28)(29). Finally, 54 articles were included in this meta-analysis ( 9,(11)(12)(13)(14) ( Figure 1 ).…”

Nutritional and Dietary Aspects of Celiac Disease

“…It is one of the main causes of malabsorption in developed countries. 14 The classic form of the disease is characterized by the appearance of severe symptoms of malabsorption (diarrhea, steatorrhea, lack of appetite, growth retardation, and deficiencies in fat-soluble vitamins, iron, calcium, and folic acid), positive serum antibodies, and severe villous atrophy, which is the typical presentation in children between the ages of 9 and 24 months. After the age of 3 years, loose stools, short stature, treatmentresistant ferropenic anemia, and mood alterations are frequent.…”

Diagnosis and management of coeliac disease in children

“…There is clearly a strong genetic component to CD with the risk of first degree relatives of CD sufferers having CD of about 10% 22. The risk increases significantly in monozygotic (∼85%) and dizygotic (∼20%) twins 23.…”