Delay of Diagnosis
Conclusion: Early diagnosis and appropriate treatment of the disease,
and follow up of family members are crucial to prevent intestinal
Celiac disease and fulminant T lymphoma detected too late in a 35-year-old female patient: case report
PMID:21875423 Aug 2011
PURPOSE: Delays in diagnosing celiac disease average 13 years. We aimed to identify reasons for misdiagnosis in family medicine. BACKGROUND: During a larger study on diagnosis, a scenario describing a 30-year-old female with 3-month abdominal pain, diarrhea, and microcytic anemia consistent with celiac disease was presented on a computer to 84 family physicians. Their information gathering and diagnoses were recorded. Fifty physicians misdiagnosed, and 38 of these took part in "stimulated recall": they were asked to recall their hypotheses and inferences step by step, aided by a record of their information gathering. They were unaware of the misdiagnosis. Analyses. Transcripts were analyzed to identify whether celiac disease was mentioned and how information was interpreted. Two raters independently assessed information interpretation against the published evidence (kappa = 0.85). RESULTS: Physicians did not change their diagnoses during stimulated recall. Only 10 physicians mentioned celiac disease as a hypothesis (26%). "Diarrhea" and "pain relief by defecation," consistent with both celiac disease and irritable bowel syndrome (IBS), were only linked to IBS. "Absence of weight loss" led to rejecting celiac disease, although weight loss is characteristic of advanced disease. A complete blood count was requested as a routine test and not specifically for celiac disease. Thus, the unexpected result of "microcytic anemia," inconsistent with IBS, did not trigger the correct diagnosis. CONCLUSIONS: Most physicians never considered celiac disease. Information inconsistent with the favorite IBS diagnosis was overlooked. Reviewing the case did not prompt physicians to consider celiac disease, re-evaluate the evidence, or rethink the IBS diagnosis.
Missing Celiac Disease in Family Medicine: The Importance of Hypothesis Generation.
PMID: 19270107 Mar 2009
Investigation and management of coeliac disease.
Recognizing celiac disease on the basis of the various manifestations of the disorder is difficult. In a study20 of 228 patients with adult-onset celiac disease, it was found that 42 were diagnosed at age 60 or later. Seven patients with dermatitis herpetiformis were excluded, leaving 35 patients in the analysis. Fifteen of the 35 patients had been seen--with unexplained symptoms and abnormal blood tests--for an average of 28 years by their family physicians or in hospital outpatient departments before the diagnosis of celiac disease was made.
A national survey35 of 1,937 members of the Canadian Celiac Association addressed the issue of previous missed diagnosis of celiac disease. Of 686 patients with biopsy-proven celiac disease, 299 (43 percent) had previously been given the following incomplete or missed diagnoses: anemia, 47; stress, 45; nervous condition, 41; irritable bowel syndrome, 34; gastric ulcer, 23; food allergy, 19; colitis, 13; menstrual problems, 13; edema, 9; gallstones, 9; diverticulitis, 6; dermatitis herpetiformis, 4 and other, 36.
From: Detecting Celiac Disease in Your Patients by Harold T. Pruessner, MD
PMID: 9518950 Mar 1998
CONCLUSION: We report the 21-year experience from a single centre involving 86 biopsy proven cases demonstrating significant changes in the presentation of childhood CD, namely; a decreased proportion presenting with GI manifestations and a rise in the number of asymptomatic cases picked up by targeted screening. Almost one in four children with CD are now diagnosed by targeted screening, a significant proportion of these being relatively asymptomatic. The majority of children with CD remain undiagnosed. Paediatricians and primary care physicians should maintain a high index of suspicion and have a low threshold for testing so that the potential long term problems associated with untreated CD can be prevented.
The changing clinical presentation of coeliac disease.
PMID: 16887861 Aug 2006
The purpose of this study was to explore how women with ambiguous chronic illness, such as celiac disease and interstitial cystitis, cope with the difficulty of being diagnosed and the subsequent realities of daily life. A convenience sample of 15 women with chronic ambiguous illness in 4 geographic areas was interviewed via qualitative methods. Data were analyzed using conceptual coding and constant comparative methods. These categories were identified: persistence in obtaining a correct diagnosis, trivialization and stigmatization, embarrassment, being an inconvenience, and ways of coping. Women were misdiagnosed for years (R = 2 to 11) and felt dismissed as being depressed or hysterical. Yet, they emphasized that persistence in obtaining a correct diagnosis is essential even though it may mean suffering embarrassment and inconvenience. Suggestions for community health nurses to improve the lives of women with ambiguous chronic illness are offered.
Ambiguous chronic illness in women: community health nursing concern.
PMID: 16863401 Fall 2006
Over a 7 1/2-year period, 39 patients were diagnosed, 49% within the last 18 months of the study period. Fourteen patients (39%) had been referred to the hospital a total of 30 times with features suggestive of celiac sprue, yet without being successfully diagnosed: the delay between initial referral and diagnosis was 6 years in nine of these patients
How many hospital visits does it take before celiac sprue is diagnosed?
Coeliac disease is not born in the minds of doctors diagnosing dyspepsia and/or irritable bowel syndrome, or associated auto-immune diseases, such as thyroid, diabetes mellitus type I, Sjogren's disease etc. The consequence is a delay in diagnosis, with secondary problems as long term autoimmune stimulation, osteoporosis and secondary malignancies. Enteropathy associated T-cell lymphomas are well known, but considering coeliac disease in T-cell lymphomas outside the gastrointestinal tract is not yet common sense.
Coeliac disease--has the time come for routine mass screening? In 2002--2010--2020? PMID: 12368936
Coeliac disease is a common finding among patients labelled as irritable bowel syndrome. In this sub-group, a gluten free diet may lead to a significant improvement in symptoms. Routine testing for coeliac disease may be indicated in all patients being evaluated for irritable bowel syndrome.
Coeliac disease presenting with symptoms of irritable bowel syndrome.
A case-control study of presentations in general practice before diagnosis of coeliac disease.
PMID: 17688758 Sept 2007
Celiac disease and obesity: need for nutritional follow-up after diagnosis.
PMID: 20717130 Aug 2010
RESULTS:: Seven of the 143 (5%) patients had BMI >95th percentile.
The most common presenting symptoms among obese patients were abdominal
pain, diabetes, and diarrhea. Symptoms improved in all of the patients
on a GFD. BMI decreased in 4 (50%), increased in 2 (25%), and was not
available in 1 patient at 1 year after starting on GFD. CONCLUSIONS::
Obesity is more common in children with CD than previously recognized.
In the appropriate clinical setting, CD must be considered even in obese
Obesity in Pediatric Celiac Disease.
PMID: 20479683 May 2010
It has become apparent recently that celiac disease, once believed to be primarily a childhood disease, can affect people of any age. Epidemiologic studies have suggested that a substantial portion of patients are diagnosed after the age of 50. Indeed, in one study, the median age at the diagnosis was just under the age of 50 with one-third of new patients diagnosed being older than 65 years.
Celiac disease in the elderly.
PMID: 19699406 Sept 2009
CONCLUSIONS: The prevalence of celiac disease was high in elderly people, but the symptoms were subtle. Repeated screening detected five biopsy-proven cases in three years, indicating that the disorder may develop even in the elderly. Increased alertness to the disorder is therefore warranted.
Increasing prevalence and high incidence of celiac disease in elderly people: A population-based study.
PMID: 19558729 June 2009
There is an increased awareness that celiac disease may occur in the elderly although presentations with either diarrhea, weight loss or both may be less common causing delays in diagnosis for prolonged periods. Higher detection rates also seem evident owing to active case screening, largely through serodiagnostic measures. In some elderly patients who are genetically predisposed, it has been hypothesized that celiac disease might be precipitated late in life by an antigen, possibly from an infectious agent. As a result, peptide mimicry or other poorly-defined mechanisms may precipitate an autoimmune gluten-dependent clinical state. Although diarrhea and weight loss occur, only isolated iron deficiency anemia may be present at the time of initial diagnosis. In addition, the risk of other autoimmune disorders, particularly autoimmune thyroiditis, and bone disease, are increased. Osteopenia may also be associated with an increased risk of fractures. Finally, elderly celiacs have an increased risk of malignant intestinal disease, especially lymphoma.
Adult celiac disease in the elderly.
PMID: 19058324 Dec 2008
Up to 34% of patients with newly diagnosed celiac disease are older than 60 years of age. The symptomatic presentation of celiac disease in elderly patients can be subtle, leading to a considerable delay in diagnosis and potential accumulation of associated secondary complications. Given that celiac disease is associated with significant morbidity and reduced life expectancy, physicians need to be aware of this condition and its occurrence in the current increasingly elderly population. Compliance with a strict gluten-free diet is as easily achieved in elderly patients as in younger patients, and has been reported to reduce the risks of cancer and lymphoma associated with celiac disease.
Celiac disease in the elderly.
PMID: 18941431 Oct 2008
BACKGROUND: Up to 1% of the population suffer from coeliac disease. Data on the prevalence in elderly people is scant. We hypothesized that they would over time have developed obvious symptoms. Clinically silent or undiagnosed disease would thus be relatively uncommon. CONCLUSION: The prevalence of coeliac disease in elderly people was higher than what has been reported in the population in general. Active case finding by serologic screening is encouraged, since undetected cases may be prone to increased morbidity and mortality.
Undetected coeliac disease in the elderly: a biopsy-proven population-based study.
PMID: 18467196 Oct 2008
A 14-y-old boy presented with episodic diarrhoea associated with eating spaghetti. His body mass index (BMI) at presentation was 37.2 kg/m2 (>99.9th centile). Both antigliadin and anti-endomysial antibodies were positive, and coeliac disease was diagnosed by jejunal biopsy. His diarrhoea ceased and the gliadin and endomysial antibodies disappeared after starting gluten-free diet. At 17 y, his BMI increased to 42.7 kg/m2 despite dietary support. CONCLUSION: Obesity in a child does not exclude the diagnosis of coeliac disease, especially if presenting with suggestive symptoms.
A boy with coeliac disease and obesity.
PMID: 16825144 May 2006
Antibody negative coeliac disease presenting in elderly people—an easily missed diagnosis
BMJ, Apr 2005; 330: 775 - 776.
Atypical presentation of coeliac disease [obesity]
BMJ 2005;330:773-774 (2 April), doi:10.1136/bmj.330.7494.773
Diagnosis of coeliac disease: Follow up and review are needed when test results are not clear
BMJ 2005;330:739-740 (2 April), doi:10.1136/bmj.330.7494.739