Common Sense Health: Has the diagnosis for celiac disease been missed?

By DR. GIFFORD-JONES & DIANA GIFFORD-JONES on November 5, 2021.

Some health problems can be hard to pinpoint.

An accurate diagnosis of celiac disease can be easily missed. Among adults in particular, symptoms can be so subtle it can go undetected for years, causing other problems that further complicate a definitive diagnosis.

Researchers at Duke University examined a randomized sample of 2,835 people over the age of 55, finding 2.13% had this disease but didn’t know it. Today, celiac disease affects 1% of the population in Western countries.

Celiac disease is an autoimmune disorder. Sufferers encounter trouble when eating foods containing gluten, found in wheat and other grains. The immune system attacks small, finger-like protrusions, called villi, lining the small intestine, causing inflammation and scarring of the intestinal wall.

As the Gifford-Jones Law states, one problem leads to another. The villi in the small bowel become less effective in absorbing nutrients from food. Poor absorption of nutrients leads to problems for bones, muscles and organs. Research has shown that people recently diagnosed with celiac disease are commonly deficient in fiber, iron, calcium, magnesium, zinc, folate, niacin, riboflavin, vitamin B12 and vitamin D.

If celiac disease is not treated, nutritional deficiencies can cause more problems, such as anemia, neuropathy (nerve disorder) causing pain, numbness, tingling in the extremities and weakening of the bones (osteoporosis), along with fatigue.

Classic symptoms are diarrhea, bloating, pain and weight loss. But since these symptoms may not be severe enough to prompt attention, people may live with it for years before the progression of disease leads to the medical tests required for diagnosis. For example, a study published in Digestive and Liver Disease found that of more than 2,000 adults tested 52 to 74 years of age, 2% were diagnosed with celiac disease. Most of the people had mild or no symptoms.

To diagnose celiac disease, physicians look for a family history of Type-1 diabetes, autoimmune thyroid disease, or liver problems.

Blood testing follows. It’s important the blood tests for celiac disease are done before trying a gluten-free diet. Eliminating gluten from the diet might make the blood test appear normal.

A serological test looks for antibodies in the blood. Elevated levels of antibody proteins indicate an immune reaction to gluten. There is also a genetic test to rule out celiac disease.

The challenge is that a genetic mutation causes the problem, but unlike some conditions in which positive genetic tests confirm disease, a positive result for a celiac suggests a small likelihood, not certainty, of disease.

The next step is endoscopy. A small tube with a tiny camera is passed into the intestines and a biopsy is done to analyze damage to villi.

There’s good news from Johns Hopkins University. Older people who have gone undiagnosed for years usually have a milder form of celiac disease. They therefore show less damage to the intestinal villi than those who encounter the disease earlier in life.

Although new drug treatments are being explored, at the moment the only treatment is lifelong adherence to a gluten-free diet. This can be daunting as many foods contain gluten including pastas, breads and baked goods. And it’s hard to avoid gluten when eating out.

Dieticians will advise focusing on “whole” foods that are naturally gluten free, such as brown rice, potatoes, vegetables, fruits, nuts and lean meats. Monitoring vitamin absorption is key.

After adopting a strict gluten-free diet, intestinal villi take about two years to heal. Most people notice symptoms dissipating and enjoy a new feeling of well-being.