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The practice of clinical medicine needs to be a very flexible discipline which can adapt promptly to continuously changing surrounding events. Despite the huge advances and progress made in recent decades, clinical reasoning to achieve an accurate diagnosis still seems to be the most appropriate and distinctive feature of clinical medicine. This is particularly evident in internal medicine where diagnostic boundaries are often blurred. Making a diagnosis is a multi-stage process which requires proper data collection, the formulation of an illness script and testing of the diagnostic hypothesis. To make sense of a number of variables, physicians may follow an analytical or an intuitive approach to clinical reasoning, depending on their personal experience and level of professionalism. Intuitive thinking is more typical of experienced physicians, but is not devoid of shortcomings. Particularly, the high risk of biases must be counteracted by de-biasing techniques, which require constant critical thinking. In this review, we discuss critically the current knowledge regarding diagnostic reasoning from an internal medicine perspective.

We tested 310,605 SNPs for association in 778 individuals with celiac disease and 1,422 controls. Outside the HLA region, the most significant finding (rs13119723; P = 2.0 × 10 −7 ) was in the KIAA1109 - TENR - IL2 - IL21 linkage disequilibrium block. We independently confirmed association in two further collections (strongest association at rs6822844, 24 kb 5′ of IL21 ; meta-analysis P = 1.3 × 10 −14 , odds ratio = 0.63), suggesting that genetic variation in this region predisposes to celiac disease.

It seems obvious to healthcare professionals that patients with coeliac disease should receive regular follow-up. Surprisingly, there is little evidence that patients benefit in terms of reduced morbidity or mortality. However, several authoritative bodies have published guidelines on the management of coeliac disease that recommend regular follow-up. There is good evidence that compliance with a gluten-free diet reduces the risk of complications such as osteoporosis or small bowel lymphoma. Compliance is enhanced particularly by education about the disease and the gluten-free diet and by support from peers or professionals. Such input can be provided by regular follow-up, which thereby should improve compliance and hence long-term health. The consensus of the recommendations for follow-up suggests an annual review by a physician and dietitian. At annual follow-up the disease status can be checked and nutritional advice can be given, including checking the adequacy of, and the compliance with, the gluten-free diet. Complications and associated medical conditions can be sought, genetic risks explained and support and reassurance given. Specialist dietitians have particular expertise in relation to diet and nutritional management; specialist clinicians have a broader range of expertise in many aspects of management of the disease. A team approach for providing follow-up is the ideal, with a clinician and dietitian, both with expertise in coeliac disease, being involved. No one particular group of healthcare professionals is necessarily better than the other at providing follow-up.

Our genome-wide association study of celiac disease previously identified risk variants in the IL2 – IL21 region. To identify additional risk variants, we genotyped 1,020 of the most strongly associated non- HLA markers in an additional 1,643 cases and 3,406 controls. Through joint analysis including the genome-wide association study data (767 cases, 1,422 controls), we identified seven previously unknown risk regions ( P < 5 × 10 −7 ). Six regions harbor genes controlling immune responses, including CCR3 , IL12A , IL18RAP , RGS1 , SH2B3 (nsSNP rs3184504) and TAGAP . Whole-blood IL18RAP mRNA expression correlated with IL18RAP genotype. Type 1 diabetes and celiac disease share HLA-DQ , IL2 – IL21 , CCR3 and SH2B3 risk regions. Thus, this extensive genome-wide association follow-up study has identified additional celiac disease risk variants in relevant biological pathways.

It seems obvious to healthcare professionals that patients with coeliac disease should receive regular follow-up. Surprisingly, there is little evidence that patients benefit in terms of reduced morbidity or mortality. However, several authoritative bodies have published guidelines on the management of coeliac disease that recommend regular follow-up. There is good evidence that compliance with a gluten-free diet reduces the risk of complications such as osteoporosis or small bowel lymphoma. Compliance is enhanced particularly by education about the disease and the gluten-free diet and by support from peers or professionals. Such input can be provided by regular follow-up, which thereby should improve compliance and hence long-term health. The consensus of the recommendations for follow-up suggests an annual review by a physician and dietitian. At annual follow-up the disease status can be checked and nutritional advice can be given, including checking the adequacy of, and the compliance with, the gluten-free diet. Complications and associated medical conditions can be sought, genetic risks explained and support and reassurance given. Specialist dietitians have particular expertise in relation to diet and nutritional management; specialist clinicians have a broader range of expertise in many aspects of management of the disease. A team approach for providing follow-up is the ideal, with a clinician and dietitian, both with expertise in coeliac disease, being involved. No one particular group of healthcare professionals is necessarily better than the other at providing follow-up.

It seems obvious to healthcare professionals that patients with coeliac disease should receive regular follow-up. Surprisingly, there is little evidence that patients benefit in terms of reduced morbidity or mortality. However, several authoritative bodies have published guidelines on the management of coeliac disease that recommend regular follow-up. There is good evidence that compliance with a gluten-free diet reduces the risk of complications such as osteoporosis or small bowel lymphoma. Compliance is enhanced particularly by education about the disease and the gluten-free diet and by support from peers or professionals. Such input can be provided by regular follow-up, which thereby should improve compliance and hence long-term health. The consensus of the recommendations for follow-up suggests an annual review by a physician and dietitian. At annual follow-up the disease status can be checked and nutritional advice can be given, including checking the adequacy of, and the compliance with, the gluten-free diet. Complications and associated medical conditions can be sought, genetic risks explained and support and reassurance given. Specialist dietitians have particular expertise in relation to diet and nutritional management; specialist clinicians have a broader range of expertise in many aspects of management of the disease. A team approach for providing follow-up is the ideal, with a clinician and dietitian, both with expertise in coeliac disease, being involved. No one particular group of healthcare professionals is necessarily better than the other at providing follow-up.