Celiac disease

What is celiac disease?

Celiac disease is an autoimmune condition where the immune system misidentifies gluten as a threat and triggers an inflammatory reaction in the small intestine. In genetically predisposed individuals, this response damages the villi, the tiny finger-like projections that line the intestinal wall and absorb nutrients. As villi flatten and disappear, the intestine's absorptive capacity is progressively lost.

The consequence is malabsorption as the body fails to adequately absorb iron, B12, folate, vitamin D, calcium, magnesium, and other essential nutrients. The extent of nutritional deficiency varies between individuals and depends on factors including the severity and duration of intestinal damage. This produces wide-ranging effects across multiple body systems, not just digestion.

Celiac disease is distinct from gluten sensitivity (non-coeliac gluten sensitivity), which involves digestive discomfort without the autoimmune intestinal damage, and from wheat allergy, which involves a different immune mechanism.

Celiac disease symptoms are highly variable, ranging from classic gastrointestinal presentation to entirely non-digestive symptoms, and in many cases no obvious symptoms at all. Common signs include:

• Bloating or stomach swelling

• Gas or flatulence after meals

• Diarrhoea or constipation

• Abdominal discomfort or cramping

• Unexplained tiredness or fatigue

• Iron-deficiency anaemia (feeling cold, pale, or weak)

• Unintended weight loss or difficulty maintaining weight

• Bone or joint pain (from low calcium or vitamin D)

• Peripheral neuropathy (tingling or numbness in hands and feet, from B12 deficiency)

• Skin manifestations, particularly dermatitis herpetiformis, an intensely itchy blistering rash associated with coeliac disease

• Mouth ulcers and dental enamel defects

• Mood changes, brain fog, or mild cognitive difficulties

• In children: failure to thrive, delayed growth, and behavioural changes

Some people have asymptomatic or minimally symptomatic coeliac disease where intestinal damage is present but symptoms are minimal. It is particularly common in adults and is why screening based on symptoms alone misses a large proportion of cases.

What causes celiac disease?

Celiac disease requires both genetic predisposition and gluten exposure to develop. Contributing factors include:

• Genetic predisposition: Most people with celiac disease carry HLA-DQ2 or HLA-DQ8 gene variants.

• Gluten exposure: Gluten triggers the abnormal immune response that causes intestinal inflammation and damage.

• Family history: first-degree relatives of people with celiac disease have a 10–15% lifetime risk of developing the condition.

• Associated conditions: Coeliac disease is more common in people with conditions such as type 1 diabetes, autoimmune thyroid disease, and Down syndrome.

Celiac disease is identified via blood tests for autoimmune markers and nutrient levels. In adults, positive results are assessed in secondary care, where further testing and, when appropriate, duodenal biopsy can confirm the diagnosis. Extremely eleveated levels of tTg-lgA can lead to a coeliac diagnosis without needing a biopsy.

Blood tests: Elfcare's panel includes the primary celiac screening markers and the key nutritional markers reflecting malabsorption:

• tTG-IgA: The primary screening marker for active celiac disease.

• Total IgA: Measured to ensure tTG-IgA results are accurate and not a false negative.

• Hemoglobin, ferritin, and iron: Detects iron-deficiency anemia, a common sign of malabsorption.

• Vitamin B12 and folate: Essential for nerve health; levels are often low due to gut damage.

• Vitamin D and calcium: Monitored to prevent bone loss and mineral depletion.

• Magnesium: Often low in active disease due to impaired intestinal absorption.

• TSH: Screens for thyroid disease, which frequently co-occurs with celiac disease.

AMRA® body composition analysis: Elfcare's AMRA analysis can identify low muscle mass and other nutritional depletion patterns that may reflect chronic malabsorption, adding further context alongside the blood panel.

Abdominal MRI: while blood tests are the primary tool, an abdominal MRI can identify structural complications, such as bowel wall changes or lymphadenopathy, providing a comprehensive view of internal organ health.

Important: Coeliac blood tests are most reliable while you are still eating gluten. Do not start a gluten-free diet before completing diagnostic testing unless advised by a specialist, as reducing or eliminating gluten can make the results less reliable.

Why early detection matters

Coeliac disease can remain undiagnosed for years, particularly when symptoms are mild or non-specific. Identifying the condition allows a strict gluten-free diet to be started with specialist dietary support. This can improve symptoms, correct nutritional deficiencies, and promote healing of the intestinal lining, while reducing the risk of long-term complications associated with untreated disease.

Long-term complications of untreated celiac disease

Untreated celiac disease causes progressive intestinal damage and sustained nutrient malabsorption. Over time, this can result in serious complications:

• Osteoporosis: from chronic calcium and vitamin D malabsorption

• Anaemia: from iron, B12, or folate deficiency

• Peripheral neuropathy: from B12 deficiency and direct immune-mediated nerve damage

• Infertility and pregnancy complications: in both men and women

• Systemic risks: Higher susceptibility to other autoimmune conditions and rare intestinal lymphomas.

Strict adherence to a gluten-free diet is essential. It can improve symptoms, correct nutritional deficiencies, and allow the intestinal lining to heal, although recovery can take time and some people have persistent intestinal damage despite treatment.

How Elfcare can help

Elfcare's blood panel includes tTG-IgA and total IgA, the primary celiac screening markers, alongside a comprehensive nutritional profile covering iron, B12, folate, vitamin D, calcium, and magnesium. Together these provide both the direct autoimmune signal and a picture of its downstream nutritional consequences.

Our abdominal MRI adds structural context, and our AMRA® body composition analysis can identify low muscle mass and nutritional depletion patterns associated with chronic malabsorption.

If our blood tests identify elevated celiac antibodies or significant nutritional deficiencies consistent with malabsorption, we take care of further diagnostics or refer you to the appropriate specialist.