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Gemma, a 30-year-old woman from Windsor, had been suffering with ill health for over a decade by the time she attended an appointment with her GP in July 2018.
Aged 14-17 years, Gemma had multiple presentations to primary care, due to abdominal cramping and stomach upset in connection with food intake. At this time, the GP advised her to ensure she ate a healthy and varied diet, including plenty of fibre.
At the age of 19 years, Gemma presented to her GP again, with difficulty eating, abdominal pain, mild diarrhoea, and general malaise/fatigue. Her full blood count and haematinics were normal, and she was referred for a colonoscopy which did not discover any abnormalities. The GP told Gemma that the most likely cause of her symptoms was irritable bowel syndrome (IBS), and no further investigations were performed.
Gastrointestinal symptoms alone cannot accurately differentiate celiac disease from IBS;1 organic diseases such as celiac disease should be ruled out before a diagnosis of IBS is made.2
Celiac disease has a prevalence of 1 percent in the general population,3 and up to 4.7 percent in patients who were diagnosed with IBS based on symptom criteria.4
Between the ages of 23 and 29 years, Gemma had three complicated pregnancies. With all three, she suffered with intense pruritis during the last two trimesters, with very high levels of serum bilirubin and alanine aminotransferase. Intrahepatic cholestasis of pregnancy was determined to be the cause, and the pruritis spontaneously resolved in the postnatal period. All three children were born prematurely.
Celiac disease is associated with high miscarriage rates, intrauterine growth retardation, low birth weight, and preterm birth.5
By the time of her GP appointment in July 2018, Gemma had been struggling with her bowel symptoms for the past 11 years.
Over the years, Gemma's symptoms had evolved; she now had a very poor appetite, weight loss, and rashes and blister-like lesions on her elbows.
Gemma's GP ordered thyroid function tests and checked her vitamin D levels.
Test | Gemma's results |
---|---|
Thyroid-stimulating hormone (TSH) | high (5.2 mU/L) |
Free thyroxine (FT4) | lower limit of normal (12 pmol/L) |
Vitamin D | low (18 nmol/L) |
The GP postulated that Gemma’s vitamin D deficiency could be the reason for many of her symptoms and prescribed once-daily cholecalciferol capsules (1,400 IU).
6 months later, Gemma’s TSH was still mildly elevated, her FT4 was still on the lower limit of normal, and her vitamin D levels had returned to normal. Given that she no longer had vitamin deficiency, which was thought to be the cause of her illness, she felt pressured to ‘feel better’. However, her symptoms had not improved.
Gemma:
Despite all this, she had become so used to her poor toilet habits that she no longer noticed them; they had become part of her everyday life.
Around this time, Gemma began to keep a diary, and realised that her symptoms seemed to be linked to food consumption, but with no clear pattern of what food they might have been related to.
At the age of 31 years, Gemma's bowel habits had significantly worsened, triggering a return to her GP. She showed the GP the diary which she had been keeping, after which the GP decided to test for celiac disease and food allergy. As she also had a history of mildly elevated TSH, the GP added in a test for autoimmune thyroid disease.
Gemma’s blood results were as follows:
Test | Gemma's results |
---|---|
Tissue transglutaminase (tTG) IgA | positive (118 U/mL, 12x ULN) |
Total IgA | normal (2.1 g/L) |
Specific IgE to a panel of food allergens, including wheat | negative (<0.1 kAU/L) |
Anti-thyroid peroxidase (TPO) antibodies | positive (2,400 IU/mL) |
tTG IgA is the recommended first-line test for celiac disease, together with total IgA to check for IgA deficiency.6
Based on the results of her most recent blood tests and following confirmation by a gastroenterologist, Gemma's primary diagnosis was changed from IBS to celiac disease. Gemma was advised to begin a strict gluten-free diet, and to carry on keeping her diary—taking particular care to log food and symptoms.
It takes, on average, 10-13 years to receive a correct diagnosis of celiac disease.7,8
Gemma's endocrinologist ran further thyroid-function and antibody tests and found that she had subclinical Hashimoto's thyroiditis. This did not require treatment but was to be reviewed on a 3-monthly basis.
The prevalence of celiac disease in patients with autoimmune thyroid disease is 2-5 percent.9
By mid-2020, Gemma had completed 1 year of a strict gluten-free diet. Her bowel habits were much improved, but she still suffered with muscle pain, dry skin, malaise/fatigue, and depression.
Her tTG IgA levels were falling (43 U/mL, 4x ULN), but TSH was still elevated and FT4 had dropped below the lower limit of normal. She was subsequently diagnosed with hypothyroidism secondary to Hashimoto's thyroiditis, and began treatment with levothyroxine.
It is common practice for tTG IgA to be tested every 3 months, until normalised, and once a year as an indicator of diet adherence.6
Following 2 months of treatment with levothyroxine, Gemma's:
These results together with this patient's case history and symptoms, help confirm the diagnosis.
Test | Type | <Patients Name> Results |
Test Name | Whole or Component | ## |
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