Symptoms Vary for Under-Diagnosed Celiac Disease

When his daughter was a little more than a year old, it became apparent that she was just not gaining weight, Bradley Kass said. She had nursed until about 9 months old and had done fine. But as soon as she began eating solid foods, she ceased to thrive.

Sue Goldstein of Westchester County, N.Y., the mother of three, went to give blood and was found to be severely anemic, meaning she had a very low red blood cell count. Despite treatment, she remained anemic; her body wasn’t absorbing the iron.

Despite their different ages and apparently different symptoms, both suffered from celiac disease, a genetic condition with a known high prevalence in certain ethnic groups--such as Irish, Italians, Scandinavians, Spaniards, Jews and Palestinians. Celiac disease is little known in the U.S. and, some experts say, vastly under-diagnosed. This is despite a blood test that can screen for the disease and a diet that can control it.

Celiac disease damages the small intestine and interferes with absorption of nutrients in foods. Those with the disease cannot tolerate the protein gluten found in wheat, rye, barley and possibly oats. When they eat gluten, their immune system responds by damaging the villi, tiny, finger-like protrusions on the lining of the small intestine through which water and nutrients are absorbed. Without these villi, a person becomes malnourished regardless of how much food he or she eats. Untreated, it can become life-threatening or lead to a vast array of complications or diseases, including anemia, osteoporosis, certain kinds of cancer such as non-Hodgkins lymphoma, seizures, miscarriages or congenital malformations and short stature.

Those with “classic” celiac disease--which is what is taught in most medical schools--have failure to thrive, chronic diarrhea and foul-smelling stools. But according to Dr. Peter Green, a gastroenterologist and researcher in celiac disease at Columbia University, less than 50% of those with the disease have those classic symptoms. Others can have recurring abdominal bloating and pain, gas, unexplained anemia, joint and bone pain, behavior changes, muscle cramps, fatigue, delayed growth, tingling numbness in the legs, pale sores in the mouth, a skin rash called dermatitis herpetiformis, tooth discoloration or loss of enamel and missed menstrual periods. Some have no symptoms at all.

Celiac disease, also called gluten-sensitive enteropathy or celiac sprue, is the most common genetic disease in Europe. In Italy, about one person in 250 is affected; in Ireland it is one in 300.

Estimates have put the disease’s prevalence in the United States at one in 4,700 Americans. But Dr. Alessio Fasano, co-director of the Center for Celiac Research at the University of Maryland in Baltimore, strongly disputes that figure. In an unpublished screening of 10,000 Americans, Fasano and his colleagues found the prevalence to be one in 150. And he said the disease affects groups not previously looked at, including blacks, Latinos and Asian Indians.

Dr. Marvin Ament, chief of pediatric gastroenterology and nutrition at UCLA, said he believes that the prevalence is not as high as Fasano’s screening implies. But he agrees it is underdiagnosed, because doctors are taught only about the classic symptoms of celiac and because it is considered a rare disease--what one researcher called a “self-fulfilling prophecy.”

The good news: There is a blood test that can be used to screen for celiac.

There is also a straightforward--if not easy--treatment: eating a gluten-free diet. If the condition is caught early enough and the patient is placed on a gluten-free diet, the villi will heal and there will be no long-term consequences.

For more information

* National Digestive Diseases Information Clearinghouse: National Institute of Diabetes and Digestive and Kidney Diseases, 2 Information Way, Bethesda, MD 20892-3570; https://www.niddk.nih.gov.

* Celiac Disease Foundation, 3251 Ventura Blvd., No. 1 Studio City, CA 91604-1838; (818) 990-2354; https://www.celiac.org/.

* Celiac Sprue Assn./USA Inc., P.O. Box 31700, Omaha, NE 68131-0700; (402) 558-0600; https://www.csaceliacs.org/.