For 3 weeks, Clara avoided the potential triggers that her GP mentioned, which involved stopping her gymnastics training. However, she still had several flare-ups of rosacea and developed further symptoms, including diarrhoea, fatigue, and weight loss.
Due to Clara’s ongoing facial flushing and her new symptoms, the GP decided to request a range of blood tests to investigate other potential underlying pathologies, aside from rosacea:
Clara tested negative for food allergy but was deficient in vitamins D and B12, despite having a balanced diet including meat and fish. In light of the unexplained vitamin B12 deficiency, the GP decided to test for pernicious anaemia with blood tests for antibodies against parietal cells and intrinsic factor, which later returned negative.
Unexplained iron, vitamin B12, or folate deficiency can be a sign of coeliac disease.1
Following a repeat tTG IgA test (51 U/mL, 5x ULN), Clara’s GP had a high suspicion of coeliac disease, based on her symptoms, unexplained vitamin B12 deficiency, and elevated tTG IgA. The GP referred her to a gastroenterologist who confirmed the diagnosis.
tTG IgA is the recommended first-line test for coeliac disease, together with total IgA to check for IgA deficiency.2
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.2
After 3 months of strict adherence to a gluten-free diet, Clara’s rosacea and coeliac disease symptoms had markedly improved. She no longer had troublesome diarrhoea and had regained the weight she previously lost. However, despite Clara’s skin no longer feeling tight or itchy, she still had occasional bouts of facial flushing.
Clara told the GP that she now had much more energy and had been able to return to her gymnastics training; she felt that her quality of life had improved to near-normal.
Clara’s repeat blood test results:
Due to the elevated tryptase, Clara’s GP referred her to a specialist in mast cell disorders.
Early diagnosis and treatment of coeliac disease with a gluten-free diet implemented in coordination with a dietitian, could:
3 months later, after consultation with a specialist in mast cell disorders, it was revealed that Clara had hereditary alpha-tryptasemia syndrome. This explained the chronically elevated tryptase, and Clara’s trouble with persistent facial flushing.
Clara was still adhering to a strict gluten-free diet, and her tTG IgA level had dropped to 31 U/mL (3x ULN).
Clara’s tTG IgA level returned to normal in 2019, and she now had annual check-ups with the GP, to monitor diet adherence and symptoms associated with hereditary alpha-tryptasemia syndrome.
Her bowel symptoms and fatigue had entirely resolved on a gluten-free diet, and she was enjoying national success as a gymnast. She decided to leave her full-time office job to pursue a career in gymnastics.
In April 2020, her younger brother was diagnosed with coeliac disease at the age of 25 years, after living with intermittent abdominal pain and bloating for several years.
First-degree relatives have a 10 percent chance of developing coeliac disease.9
Screening for first-degree relatives, and case-finding in second-degree relatives, can help identify patients earlier, thus reducing the risk of complications.10,11
Do you routinely screen first-degree relatives for coeliac disease?
This is a fictional case study, and the image used is of a model.
IgA: immunoglobulin A; IgE: immunoglobulin E; ULN: upper limit of normal
1. Halfdanarson T R, Litzow M R, Murray J A. Hematologic manifestations of celiac disease. Blood 2007;109(2):412-421
2. Al-Toma A, Volta U et al. European Society for the Study of Coeliac Disease (ESsCD) guideline for coeliac disease and other gluten-related disorders. United European Gastroenterol J 2019;7(5):583-613
3. Murch S, Jenkins H et al. Joint BSPGHAN and Coeliac UK guidelines for the diagnosis and management of coeliac disease in children. Arch Dis Child 2013;98(10):806-811
4. Elfström P, Sundström J, Ludvigsson J F. Systematic review with meta-analysis: associations between coeliac disease and type 1 diabetes. Aliment Pharmacol Ther 2014;40(10):1123-1132
5. Bozzola M, Meazza C, Villani A. Auxo-endocrinological approach to celiac children. Diseases 2015;3(2):111-121
6. Grace-Farfaglia P. Bones of contention: bone mineral density recovery in celiac disease--a systematic review. Nutrients 2015;7(5):3347-3369
7. Ciacci C, Ciclitira P et al. The gluten-free diet and its current application in coeliac disease and dermatitis herpetiformis. United European Gastroenterol J 2015;3(2):121-135
8. Shah S, Leffler D. Celiac disease: an underappreciated issue in women's health. Womens Health (Lond) 2010;6(5):753-766
9. Lewis D, Haridy J, Newnham E D. Testing for coeliac disease. Aust Prescr 2017;40(3):105-108
10. Bonamico M, Ferri M et al. Serologic and genetic markers of celiac disease: a sequential study in the screening of first degree relatives. J Pediatr Gastroenterol Nutr 2006;42(2):150-154
11. Singh P, Arora S et al. Risk of celiac disease in the first- and second-degree relatives of patients with celiac disease: a systematic review and meta-analysis. Am J Gastroenterol 2015;110(11):1539-1548