Delayed diagnosis of Celiac disease may put lives at risk: Is screening the solution?

A paper published in this month's special Celiac disease (CD) issue of the UEG Journal assessed the viability of screening for CD in the general population and concluded that screening of first-degree relatives of people with CD, people with type 1 diabetes, iron-deficiency anemia, Down's syndrome and other high-risk groups may be appropriate.1

"This important research highlights the value of serological testing for CD in anyone with symptoms that might be due to the condition and in all asymptomatic individuals from high-risk groups," says Professor Antonio Gasbarrini from the Gemelli University Hospital in Rome, Italy. "It is vital that we now start to take positive action across Europe to tackle this prevalent condition and reduce its serious health consequences."

A diagnosis of CD is usually made based on the presence of antibodies to gluten in the blood in addition to biopsy evidence of inflammation in the small intestine.2 However, the availability of sensitive and specific blood tests for markers of CD has raised the possibility of population-wide screening for CD in an effort to ensure earlier diagnosis and treatment of the condition.

"Celiac disease is readily treated with a gluten-free diet, so it is unacceptable that people suffer its symptoms for many years before they are properly diagnosed" says Professor Gasbarrini. "We now have blood screening tests that are simple, safe and accurate, and it is time we started using them effectively to limit the damage caused by this common condition."

Celiac disease is a genetically-determined, autoimmune condition caused by a permanent intolerance to gluten found in wheat, barley and rye. The condition causes inflammation in the small intestine, leading to diarrhea, weight loss, fatigue and other non-specific symptoms. It has been estimated that around 1% of the population may have CD, although estimates vary between countries, and the prevalence of CD appears to be increasing.1 If left undiagnosed and untreated, CD can have a profound effect on quality of life,3 may lead to adverse pregnancy outcomes,4 and has been associated with a reduced life-expectancy.5

"Unfortunately, because the symptoms of CD are often vague and similar to those of irritable bowel syndrome, many people with CD are undiagnosed and many who are diagnosed will have waited 10 years or more for their diagnosis to be confirmed," says Prof. Gasbarrini. "At best, only around one-quarter of all CD sufferers are likely to have been diagnosed by a physician,6 leaving large numbers of people still at risk."

References

1. Ludvigsson JF, Card TR, Kaukinen K, et al. UEG Journal 2015;3(2):106-120.
2. Ludvigsson JF, Bai JC, Biagi F, et al. Gut 2013; 62:43-52.
3. Norström F, Lindholm L, Sandström O, et al. BMC Gastroenterol 2011;11:118.
4. Khashan AS, Henriksen TB, Mortensen PB, et al. Hum Reprod 2010;25(2):528-34.
5. Rubio-Tapia A, Kyle RA, Kaplan EL, et al. Gastroenterology 2009;137(1):88-93. 6. Mustalahti K, Catassi C, Reunanen A, et al. Ann Med 2010;42:587-95.