Celiac disease, a common but elusive diagnosis

In January, he came down with an intestinal bug from which he never seemed to recover. He developed severe headaches whenever he tried to read or concentrate, became extremely weak, mentally foggy and unable to go to school at all. He vomited violently after meals, lost weight, and eventually could not walk unaided.

When a child develops such a devastating constellation of symptoms, you’d think his doctors might consider testing for celiac disease, an auto-immune reaction to dietary gluten that can destroy the small intestine. Awareness of the problem has never been greater.

But even in the most sophisticated medical settings, the diagnosis can be missed or the tests done incorrectly.

Gluten is a protein in grains like wheat, rye and barley that contains gliadin peptides. In people with celiac disease, these can trigger an auto-immune reaction that damages the villi, tiny projections lining the small intestine that absorb nutrients from food into the body. People with celiac disease must avoid wheat, rye or barley, or any of the thousands of products or ingredients made from these grains. Some must also abstain from oats.

The disease runs in families. First-degree relatives of someone with celiac disease should also be tested for it, even if they have no symptoms. If another person in the immediate family has the disease, second-degree relatives should be tested, Dr Joseph A Murray, a gastroenterologist at the Mayo Clinic, said in an interview.

Although traditionally considered a disease that shows up in childhood, people of all ages may develop it. But the overwhelming majority of people with celiac disease remain undiagnosed.

A main reason for this lag in detection is the long and confusing list of signs and symptoms, some of which may be mild enough to be easily ignored or attributed to another condition, like irritable bowel syndrome or an allergy.

Abdominal pain and bloating are the most common signs. But according to a recent review in JAMA Pediatrics, possible symptoms include chronic or intermittent constipation; vomiting; loss of appetite; weight loss (or, in children, growth failure); fatigue; iron deficiency anemia; abnormal dental enamel; mouth ulcers; arthritis and joint pain; bone loss and fractures; short stature; delayed puberty; unexplained infertility and miscarriage; recurring headaches; loss of feeling in hands and feet; poor coordination and unsteadiness; seizures; depression; hallucinations, anxiety and panic attacks.