Kostmanns disease or severe hereditary neutropenia-the man behind the syndrome

Seventy years ago, the Swedish pediatrician Rolf Kostmann (1909-1982) was the first to report on a previous unknown lethal hereditary neutropenia in infants, Kostmanns disease. This essay presents the man behind the syndrome rather than focusing on the disease itself.Funding Agencies|Linkoping University</p

On the diagnosis of childhood coeliac disease : Past and present

The publication is a Paediatric Essay.</p

On the diagnosis of childhood coeliac disease: Past and present

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On the diagnosis of childhood coeliac disease: Past and present

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Unusually High Incidence of Paediatric Coeliac Disease in Sweden during the Period 1973 - 2013.

The prevalence of coeliac disease in Sweden during the "epidemic period" (1984-1996) was one of the highest in the world. The aim of this study was to assess the coeliac disease incidence in our region over the 41-year period, and how diagnostic activity and diagnostic accuracy were affected by the introduction of antibody testing. We also looked into how patients with mild enteropathy were evaluated.In the county of Östergötland in Sweden, 2790 paediatric patients were investigated for suspected coeliac disease between 1973 and 2013. Notes were scrutinised for data on sex, age, histopathological reports and final diagnosis. For comparative purposes this period was divided into three sub-periods (1973-1983, 1984-1996 and 1997-2013) named pre-epidemic, epidemic and post-epidemic.Coeliac disease diagnosis was received by 1,030 patients. The peak incidence rate, 301 cases/100,000 in 1994 for the age group 0-1.9 years is the highest figure ever reported. The other age groups, 2-4.9, 5-14.9, and 15-17.9 years, also had high incidence rates. After the 1984-1996 "epidemic period" the incidence decreased for the youngest group but continued to increase for the other groups. The cumulative incidence at 18 years-of-age for children born during the epidemic reached 14 cases/1000 births, the highest figure hitherto reported. Diagnostic activity differed significantly between the three sub-periods (p<0.001) increasing gradually from 1984 and reaching a peak value of 0.87 in 2012. Cases of mild enteropathy were more frequently regarded as non-coeliac disease cases, decreasing significantly in the "post-epidemic" period (p<0.001).The incidence rate and cumulative incidence of coeliac disease were possibly the highest ever reported. Changes in diagnostic activity and accuracy could not be attributed to the introduction of new antibody tests, possibly because of other changes e.g. variations in the symptoms at presentation and improved knowledge of the disease among parents and health professionals

Is mass screening for coeliac disease a wise use of resources? A health economic evaluation

Background: Living with undiagnosed symptomatic coeliac disease is connected with deteriorated health, and persons with coeliac disease often wait a long time for their diagnosis. A mass screening would lower the delay, but its cost-effectiveness is still unclear. Our aim was to determine the cost-effectiveness of a coeliac disease mass screening at 12 years of age, taking a life course perspective on future benefits and drawbacks. Methods: The cost-effectiveness was derived as cost per quality-adjusted life-year (QALY) using a Markov model. As a basis for our assumptions, we mainly used information from the Exploring the Iceberg of Celiacs in Sweden (ETICS) study, a school-based screening conducted in 2005/2006 and 2009/2010, where 13,279 12-year-old children participated and 240 were diagnosed with coeliac disease, and a study involving members of the Swedish Coeliac Association with 1031 adult participants. Results: The cost for coeliac disease screening was 40,105 Euro per gained QALY. Sensitivity analyses support screening based on high compliance to a gluten-free diet, rapid progression from symptom-free coeliac disease to coeliac disease with symptoms, long delay from celiac disease with symptoms to diagnosis, and a low QALY score for undiagnosed coeliac disease cases. Conclusions: A coeliac disease mass screening is cost-effective based on the commonly used threshold of 50,000 Euro per gained QALY. However, this is based on many assumptions, especially regarding the natural history of coeliac disease and the effects on long-term health for individuals with coeliac disease still eating gluten

How do Swedish paediatric clinics diagnose coeliac disease? Results of a nationwide questionnaire study

Background and aim: Diagnosis of coeliac disease is based on the demonstration of enteropathy in a small bowel biopsy. Correct diagnosis is of utmost importance, since the need for dietary management is life long, and inadequate treatment may lead to potentially serious complications. The Swedish Working Group for Paediatric Coeliac Disease has published guidelines for the diagnosis of childhood coeliac disease. The present questionnaire was designed in order to create the basis for revision of those guidelines. Methods: In 2004, a nationwide questionnaire concerning current diagnostic routines was sent to all 45 paediatric clinics performing small bowel biopsy. All clinics responded. Results: All clinics base their diagnosis on small bowel biopsy findings at presentation. Furthermore, in 24 (53%) of the clinics, children with suspected coeliac disease are investigated by small bowel biopsy both at presentation and follow-up while on a gluten-free diet. Eighteen (40%) of the clinics employ a different diagnostic routine for children under 2 y of age than for those older than 2 y. All clinics use coeliac serological testing at various stages of the diagnostic procedure. Conclusion: All Swedish paediatric clinics perform a small bowel biopsy at presentation in children with suspected coeliac disease, and the majority of clinics perform a second biopsy when the child is on a gluten-free diet. Serological testing is frequently used as a diagnostic aid and in the monitoring of the disease while on a gluten-free diet

Diagnostic activity and accuracy among Swedish children investigated for CD with biopsy between 1973 and 2013.

<p>Arrows indicate when AGA, EMA, t-TGA tests were used in >50% of the cases investigated for CD, and also the introduction of the 2012 ESPGHAN guidelines for CD diagnosis into clinical practice. Diagnostic activity was considered as the number of subjects biopsied per 1,000 children in the study population. Diagnostic accuracy was specified as the number of CD cases per total number of children with suspected CD who underwent biopsy. The diagnostic activity and accuracy are described as ratios. The purple line represents the incidence rate of CD in the pediatric population during the same time period.</p

Flowchart of investigation.

<p>Flowchart of investigation.</p