History and exam
Key diagnostic factors
Multiple studies have shown an association between IgA deficiency and coeliac disease. Although the pathogenesis is unclear, it has been proposed that a lack of secretory IgA and Peyer's patch malfunction allow for increased free gluten peptides in the submucosa.
Patients with long-standing or refractory abdominal symptoms should be screened for coeliac disease. Patients may present with chronic or intermittent diarrhoea.
Patients with long-standing or refractory abdominal symptoms should be screened for coeliac disease.
Iron deficiency anaemia is the most common clinical presentation in adults. One systematic review and meta-analysis showed that 1 in 31 patients with iron deficiency anaemia had histological evidence of coeliac disease.
Folate (and rarely vitamin B12) deficiency may lead to a macrocytic anaemia.
Characterised by intensely pruritic papulovesicular lesions that occur symmetrically over the extensor surfaces of the arms and legs, as well as on the buttocks, trunk, neck, and scalp. Biopsy-proven dermatitis herpetiformis almost universally occurs in association with coeliac disease.
Other diagnostic factors
Family history of coeliac disease or other autoimmune disorders. Members of families who have more than one individual with coeliac disease are at higher risk of developing the disease.
History of bone pain or previous fracture, due to vitamin D deficiency and hypocalcaemia.
In children, faltering growth and delayed puberty are indications for testing for coeliac disease.
The association between type 1 diabetes mellitus and coeliac disease is well known. Clinicians caring for patients with type 1 diabetes mellitus should consider testing these patients if there are any digestive symptoms or laboratory changes to suggest coeliac disease. European guidelines recommend routine screening for coeliac disease among patients with type 1 diabetes, but optimal screening intervals have not been established.
Clinicians caring for patients with autoimmune thyroid disease should be aware of the association with coeliac disease and consider testing if symptoms occur. Unexplained increasing need for levothyroxine or treatment-refractory hypothyroidism should also lead to coeliac disease testing. Correspondingly, patients with coeliac disease should be screened for thyroid disease.
Vitamin K deficiency may lead to a coagulopathy.
Multiple studies have shown an association between immunoglobulin A (IgA) deficiency and coeliac disease. Although the pathogenesis is unclear, it has been proposed that a lack of secretory IgA and Peyer patch malfunction allow for increased free gluten peptides in the submucosa.
The association between type 1 diabetes mellitus and coeliac disease is well known. One meta-analysis found a weighted prevalence of coeliac disease of 4.5% among patients with type 1 diabetes. This association is probably based on genetic factors favouring autoimmunity, including the presence of human leukocyte antigen (HLA)-DQ2 and HLA-DQ8 and single nucleotide polymorphisms shared by both diseases. Leaky gut, with tight junction defects leading to increased passage of luminal peptides into the submucosa, resulting in immune activation, is also hypothesised, as well as enhanced basal expression of inflammatory markers.
Some studies have shown an increased prevalence of coeliac disease in patients with Sjogren's syndrome.
A few studies have shown an increased prevalence of coeliac disease in patients with Crohn's disease and, to a lesser extent, ulcerative colitis.
Studies have shown an increased prevalence of coeliac auto-antibodies in patients with primary biliary cholangitis and other liver diseases, but false positives appear higher in these populations.
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