The underdiagnosis of celiac disease in the U.S — and how we can improve screening

Medically reviewed on December 27, 2022 by Morgan Spicer, Medical Communications Manager. To give you technically accurate, evidence-based information, content published on the Everlywell blog is reviewed by credentialed professionals with expertise in medical and bioscience fields.

Dr. Guy Weiss is the UCLA Celiac Disease Program leader at the Vatche & Tamar Manoukian Division of Digestive Diseases, David Geffen School of Medicine. His clinical and research endeavors focus on gluten-associated disorders, mainly celiac disease, non/slow-responsive celiac disease, refractory celiac disease, and non-celiac gluten sensitivity, along with food allergies and sensitivities, eosinophilic gastrointestinal disorders, lymphocytic and autoimmune gastritis, and microscopic colitis. His outcomes research examines adherence to a gluten-free diet in individuals with gluten-associated disorders. He serves on the Medical Advisory Board of the Celiac Disease Foundation and is a manuscript reviewer for journals such as Gastroenterology, Clinical Gastroenterology and Hepatology, Journal of Pediatric Gastroenterology and Nutrition, and the American Journal of Clinical Nutrition. He is the Springer/Nature editor of "Diagnosis and Management of Gluten-Associated Disorders: A Clinical Casebook."

Celiac disease is estimated to affect 1 in 100 people worldwide[1], with only about 30% of cases being properly diagnosed. Because additional studies show nutritional deficiencies affect around 20% to 38% of celiac disease patients,[2] it’s important to understand the role celiac disease can play in creating these deficiencies — and what to do about it. To better understand how that discrepancy happens, we spoke with Dr. Guy Weiss, the UCLA Celiac Disease Program leader at the Vatche & Tamar Manoukian Division of Digestive Diseases, David Geffen School of Medicine, to learn more:

What is the standard way celiac disease is screened for in the United States?

Dr. Weiss: Screening for celiac disease is done by a blood test (called serology) that detects specific antibodies. The main one is tissue transglutaminase (tTG) antibody, checked in conjunction with total immunoglobulin A (IgA). In the U.S., current guidelines from 2013 suggest screening individuals with symptoms, signs, or laboratory evidence suggestive of malabsorption, stomach pain after meals, bloating, or abnormal liver enzymes and in symptomatic individuals with type 1 diabetes mellitus or a first-degree family member who has a confirmed diagnosis of celiac disease. These guidelines advise to consider screening asymptomatic relatives with a first-degree family member who has a confirmed diagnosis of celiac disease, whereas the 2017 U.S. Preventive Services Task Force (USPSTF) concluded that the current evidence is insufficient to assess the balance of benefits and harms of screening for celiac disease in asymptomatic individuals.[4]

How does this differ from other areas?

Dr. Weiss: The 2019 European Society for the Study of Coeliac Disease guidelines are more expansive compared to the American ones, advising screening in individuals with only subtle or atypical symptoms and in high-risk groups.[5] They provide a very long list and advise screening individuals with irritable bowel syndrome (IBS), unexplained abnormal liver enzymes, chronic gastrointestinal symptoms, microscopic colitis, autoimmune thyroid disorders (Hashimoto’s thyroiditis and Graves disease), decreased bone density (osteopenia/osteoporosis), unexplained neurological symptoms (like ataxia or peripheral neuropathy), recurrent canker sores, infertility, recurrent miscarriage, early menopause, chronic fatigue syndrome, pancreatitis, epilepsy, headaches including migraines, mood disorders, attention-deficit disorder, cognitive impairment, spleen disorders, psoriasis or other skin rashes, Down's or Turner's syndrome, and certain lung and kidney diseases (like pulmonary hemosiderosis and IgA nephropathy). Moreover, they advise proceeding with the confirmatory upper endoscopy with small bowel biopsies (regardless of the blood test results) in children with growth failure, individuals with chronic diarrhea, weight loss, unexplained iron deficiency anemia, unexplained high stoma output, or abnormal findings on capsule endoscopy, and in symptomatic high-risk individuals (those with a personal history of autoimmune disease or IgA deficiency, and in those with a family history of celiac disease).[5]

Can this lead to a lack of diagnosis?

Dr. Weiss: The diagnosis of celiac disease is often challenging because symptoms vary from patient to patient. Traditionally, individuals were diagnosed with celiac disease after developing chronic diarrhea (usually fatty-oily diarrhea), weight loss, or growth failure. However, nowadays, celiac disease can present with a wide range of symptoms and signs, including anemia, IBS-like symptoms, reflux, depression, migraine headaches, and more.

Related: Food allergy, food sensitivity, and celiac disease: An expert explains the key differences and how to test

When should you get tested for celiac disease?

Dr. Weiss: Celiac disease affects nearly 1% of the U.S. population and its prevalence increased over the last several decades, yet over 80% of patients remain undiagnosed.[6] At-home screening for individuals who meet the above mentioned European criteria will most likely result in increased diagnosis rates and subsequent reduction in the associated complications, ranging from quality of life, through anemia and bone fractures, to even cancers. At-home tests can provide the needed accessibility to screening of symptomatic and high-risk individuals, like family members of celiac patients.

Wondering if the Celiac Disease Screening Test is right for you? If you experience symptoms like abdominal bloating or pain, constipation or diarrhea, excessive gas, nausea or vomiting, or unexpected weight loss when eating foods that contain gluten, the Everlywell Celiac Disease Screening Test can help measure whether or not you have antibodies that may indicate celiac disease through your celiac disease blood test results.

Screening for these antibodies can be a helpful first step in determining whether celiac disease may be affecting your health. Head here to shop our at-home lab test and learn more about celiac disease.

Related content:

• You took an Everlywell Celiac Disease Screening Test — now what?
• Food allergy, food sensitivity, and celiac disease: An expert explains the key differences and how to test
• What to do after a celiac disease diagnosis: Two experts share their tips on long term management, shopping gluten-free, and more
• Diagnosed with celiac disease? Here’s what to know about vitamins and supplements

References: 1. What is Celiac Disease? Celiac Disease Foundation. URL . Accessed December 27, 2022. Accessed December 20, 2022. 2. Di Nardo G, Villa MP, Conti L, Ranucci G, Pacchiarotti C, Principessa L, Raucci U, Parisi P. Nutritional Deficiencies in Children with Celiac Disease Resulting from a Gluten-Free Diet: A Systematic Review. Nutrients. 2019 Jul 13;11(7):1588. doi: 10.3390/nu11071588. PMID: 31337023; PMCID: PMC6683263. 3. American college of gastroenterology clinical guideline: diagnosis and management of celiac disease. NIH. URL . Accessed December 20, 2022. 4. Celiac Disease: Screening. U.S. Preventive Services. URL . Accessed December 20, 2022. 5. European Society for the Study of Coeliac Disease (ESsCD) guideline for coeliac disease and other gluten-related disorders. NIH. anchor text. Accessed December 20, 2022. 6. 2021 Diagnosis and Management of Gluten-Associated Disorders Book. URL.