scholarly journals Acrodystrophic axonal polyneuropathy with celiac disease: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
S. N. Bardakov ◽  
Minh Duc Tran ◽  
S. V. Lapin ◽  
A. N. Moshnikova ◽  
E. U. Kalinina ◽  
...  

Abstract Background Patients with celiac disease present with not only gastrointestinal symptoms but also extraintestinal manifestations such as anemia, osteopathy, dermatitis herpetiformis, and celiac neuropathy. Despite a fairly wide range of celiac neuropathies, we report a case of the acrodystrophic variant of celiac polyneuropathy, which has not been previously described. Case presentation A 41-year-old Ukrainian male suffered from symmetric, sensorimotor axonal polyneuropathy and encephalopathy associated with celiac disease, which is characterized by severe trophic disorders in the lower extremities (trophic ulcers, hyperkeratosis, and anhidrosis). Acrodystrophic changes in the lower extremities were due to both neurogenic and direct immunoinflammatory damaging effects. Clinical–electrophysiological dissociation was also noted, which was represented by a gross axonal lesion with the preservation of muscle strength. The absence of enteropathic manifestations was accompanied by the pronounced histological changes in the duodenal mucosa by IIIb stage of Marsh. A gluten-free diet in combination with membrane plasma exchange and intravenous pulse methylprednisolone was prescribed to reduce the severity of sensory disorders and regression of encephalopathy within 7 months. Conclusion Celiac disease may be a potential cause of neuropathy and encephalopathy in adult patients. Further immunosuppressive treatment protocols for both intestinal and extraintestinal manifestations of celiac disease are required.

2020 ◽  
Vol 16 (3) ◽  
pp. 241-247
Author(s):  
Atifete Ramosaj-Morina ◽  
Alije Keka-Sylaj ◽  
Arbana Baloku Zejnullahu ◽  
Lidvana Spahiu ◽  
Virgjina Hasbahta ◽  
...  

Background: Celiac disease is an immune-mediated disorder characterized by variable clinical manifestations, specific antibodies, HLA-DQ2/DQ8 haplotypes, and enteropathy. Objectives: The aim of this study was to present the clinical spectrum and patterns of celiac disease in Kosovar Albanian children. Methods: A cross-sectional retrospective study was performed with Albanian children aged 0-18 years, treated for celiac disease in the Pediatric Clinic, University Clinical Center of Kosovo from 2005 to 2016. Results: During the study period, 63 children were treated for celiac disease. The mean age at diagnosis was 5.5 years (SD ± 3.31). The mean age at celiac disease onset was 3.3 years (SD ± 2.02), while the mean delay from the first symptoms indicative of celiac disease to diagnosis was 2.2 years (SD ± 2.09). More than 70% of the patients were diagnosed in the first 7 years of life, mainly presented with gastrointestinal symptoms, while primary school children and adolescents mostly showed atypical symptoms (p<0.001). The classical form of celiac disease occurred in 78% of the cases. Sixty (95%) patients carried HLA-DQ2.5, DQ2.2 and/or HLA-DQ8 heterodimers, and only three of them tested negative. Conclusions: Kosovo, as the majority of developing countries, is still facing the classical form of celiac disease as the dominant mode of presentation; as a result, most children with other forms of the celiac disease remain undiagnosed. : Physicians should be aware of the wide range of clinical presentations and utilize low testing thresholds in order to prevent potential long-term problems associated with untreated celiac disease.


2015 ◽  
Vol 33 (2) ◽  
pp. 147-154 ◽  
Author(s):  
María Inés Pinto-Sánchez ◽  
Premysl Bercik ◽  
Elena F. Verdu ◽  
Julio C. Bai

Case finding for celiac disease (CD) is becoming increasingly common practice and is conducted in a wide range of clinical situations ranging from the presence of gastrointestinal symptoms to failure to thrive in children, prolonged fatigue, unexpected weight loss and anemia. Case finding is also performed in associated conditions, such as autoimmune thyroid disease, dermatitis herpetiformis and type 1 diabetes, as well as in patients with irritable bowel syndrome, unexplained neuropsychiatric disorders and first-degree relatives of patients with diagnosed CD. This aggressive active case finding has dramatically changed the clinical characteristics of newly diagnosed patients. For instance, higher numbers of patients who present with extraintestinal symptoms are now being diagnosed with CD. Current recommendations state that due to a high risk for complications if the disease remains undiagnosed, patients with extraintestinal symptoms due to CD require appropriate diagnosis and treatment. Despite criticism regarding the cost-effectiveness of case finding in CD, such an aggressive approach has been considered cost-effective for high-risk patients. The diagnosis of CD among patients with extraintestinal symptoms requires a high degree of awareness of the clinical conditions that carry a high risk for underlying CD. Also, understanding the correct use of specific serology and duodenal histology is key for an appropriate diagnostic approach. Both procedures combined are able to confirm diagnosis in the vast majority of cases. However, in certain circumstances, serology and even duodenal histology cannot confirm or rule out CD. A common cause of negative IgA serology is IgA deficiency. For such eventuality, IgG-based serological tests can help confirm the diagnosis. Importantly, some histologically diagnosed cases still remain seronegative despite exclusion of IgA deficiency. On the other hand, duodenal histology may be normal despite the presence of CD-specific antibodies and active CD. This has been clearly demonstrated in some cases of untreated dermatitis herpetiformis, but may also be due to the patchy condition of CD or lesions that are not adequately recognized by nonexpert endoscopists and/or pathologists. The effectiveness of agluten-free diet depends on the clinical end point addressed. A good example is the outcome of bone loss. While risk for fracture normalizes after the first year of dietary treatment, bone parameters measured by densitometry may not be normalized in the long-term follow-up. Moreover, it is still unclear how far an early gluten-free diet will positively affect associated autoimmune diseases like type 1 diabetes and autoimmune thyroiditis.


Nutrients ◽  
2018 ◽  
Vol 10 (8) ◽  
pp. 1015 ◽  
Author(s):  
Pilvi Laurikka ◽  
Samuli Nurminen ◽  
Laura Kivelä ◽  
Kalle Kurppa

Population-based screening studies have shown celiac disease to be one of the most common chronic gastrointestinal diseases. Nevertheless, because of the diverse clinical presentation, the great majority of patients remain unrecognized. Particularly difficult to identify are the multifaceted extraintestinal symptoms that may appear at variable ages. Although the pathogenesis and long-term outcome of these manifestations are still poorly established, there is some evidence that unrecognized celiac disease predisposes to severe complications if not diagnosed and prevented with an early-initiated gluten-free diet. Therefore, it is of utmost importance that physicians of different disciplines learn to recognize celiac disease in individuals with non-gastrointestinal symptoms. In the future, more studies are needed to clarify the factors affecting development and prognosis of the extraintestinal manifestations.


2010 ◽  
Vol 24 (2) ◽  
pp. 109-112 ◽  
Author(s):  
Seema Rajani ◽  
Hien Q Huynh ◽  
Justine Turner

BACKGROUND: Celiac disease (CD) is recognized as one of the most common and important autoimmune gastrointestinal disorders affecting children. There is evidence that a diagnosis of CD during childhood improves health outcomes. The increasing prevalence of CD is due to increased awareness of the wide range of extraintestinal symptoms associated with CD.OBJECTIVE: To determine whether there has been a temporal increase in the diagnosis of CD associated with an increased diagnosis of children without typical gastrointestinal symptoms at the Stollery Children’s Hospital (Edmonton, Alberta).METHODS: Patients with biopsy-proven CD diagnosed at the Stollery Children’s Hospital from 1998 to 2007, were identified by retrospective chart review. Baseline and follow-up data, including demographics, symptoms, risk factors, anthropometrics and laboratory investigations, were collected.RESULTS: An increase in the frequency of diagnosis of CD was noted during the study period, particularly from January 2003 onward. Before January 2003, nine children were diagnosed with CD – all with typical symptoms. Between January 2003 and January 2007, inclusive, 149 children were diagnosed with CD, of whom 46% had absent or atypical symptoms. At follow-up, 96% of patients reported improved symptoms, including 53% of individuals who reported being asymptomatic before diagnosis.CONCLUSIONS: In the last four years of the period studied, the number of children diagnosed with CD at Stollery Children’s Hospital increased 11-fold. Screening children at risk for CD, and those with atypical presentations, contributed to the increased number of diagnoses. Identification of CD and establishment of lifelong, dietary gluten avoidance during childhood has important health benefits and should be encouraged.


Nutrients ◽  
2018 ◽  
Vol 10 (8) ◽  
pp. 1123 ◽  
Author(s):  
Xuechen Yu ◽  
Melanie Uhde ◽  
Peter Green ◽  
Armin Alaedini

Increased antibody reactivity towards self-antigens is often indicative of a disruption of homeostatic immune pathways in the body. In celiac disease, an autoimmune enteropathy triggered by the ingestion of gluten from wheat and related cereals in genetically predisposed individuals, autoantibody reactivity to transglutaminase 2 is reflective of the pathogenic role of the enzyme in driving the associated inflammatory immune response. Autoantibody reactivity to transglutaminase 2 closely corresponds with the gluten intake and clinical presentation in affected patients, serving as a highly useful biomarker in the diagnosis of celiac disease. In addition to gastrointestinal symptoms, celiac disease is associated with a number of extraintestinal manifestations, including those affecting skin, bones, and the nervous system. Investigations of these manifestations in celiac disease have identified a number of associated immune abnormalities, including B cell reactivity towards various autoantigens, such as transglutaminase 3, transglutaminase 6, synapsin I, gangliosides, and collagen. Clinical relevance, pathogenic potential, mechanism of development, and diagnostic and prognostic value of the various identified autoantibody reactivities continue to be subjects of investigation and will be reviewed here.


Food Industry ◽  
2020 ◽  
Vol 5 (1) ◽  
pp. 23-31
Author(s):  
Sergey Urubkov ◽  
Svetlana Khovanskaya ◽  
Ekaterina Pyrieva ◽  
Olga Georgieva ◽  
Stanislav Smirnov

Diet therapy is one of the main approaches to the treatment of a wide range of diseases of the digestive system. The treatment effectiveness of celiac disease depends on how strictly the patient adheres to a gluten-free diet. It is often disrupted due to the limited range of recommended foods and dishes, especially for children who are particularly sensitive to dietary restrictions. In this case, the development of new types of specialized gluten-free products is relevant, allowing to expand the diet both in terms of nutritional value and taste diversity. This study concerns the recipe developments of dry gluten-free mixtures using rice and amaranth with the inclusion of fruit and vegetable and berry raw materials intended for the nutrition of children over three years old suffering from celiac disease. When developing the recipes, researchers used various combinations of rice and amaranth flour, as well as fruit and vegetable powders. The rice flour composition varied in the range from 15 to 75%; amaranth – from 15 to 45%; fruit and vegetable and berry powders – up to 10%. The finished product was gluten-free cookies, muffins, pancakes made of rice and amaranth. Organoleptic evaluation showed that the studied samples of gluten-free cookies have high quality characteristics, have a pleasant taste and aroma. According to the calculated data, specialized gluten-free dry mixtures intended for children over three years with celiac disease can serve as an important source of: vegetable carbohydrates – from 26.81 to 55.19 g / 100g of finished products; protein – from 4.06 to 11.82 g/100g of finished products; dietary fiber – from 3.82 to 6.36 g/100g of finished products; and energy – from 158.12 to 333.96 kcal/100g of finished products) The developed recipess of gluten-free products can help to provide children with an adequate amount of nutrients and energy.


2021 ◽  
Vol 22 (2) ◽  
pp. 595
Author(s):  
Charlene B. Van Buiten ◽  
Ryan J. Elias

Celiac disease is an autoimmune disorder characterized by a heightened immune response to gluten proteins in the diet, leading to gastrointestinal symptoms and mucosal damage localized to the small intestine. Despite its prevalence, the only treatment currently available for celiac disease is complete avoidance of gluten proteins in the diet. Ongoing clinical trials have focused on targeting the immune response or gluten proteins through methods such as immunosuppression, enhanced protein degradation and protein sequestration. Recent studies suggest that polyphenols may elicit protective effects within the celiac disease milieu by disrupting the enzymatic hydrolysis of gluten proteins, sequestering gluten proteins from recognition by critical receptors in pathogenesis and exerting anti-inflammatory effects on the system as a whole. This review highlights mechanisms by which polyphenols can protect against celiac disease, takes a critical look at recent works and outlines future applications for this potential treatment method.


Author(s):  
Thomas J Littlejohns ◽  
Amanda Y Chong ◽  
Naomi E Allen ◽  
Matthew Arnold ◽  
Kathryn E Bradbury ◽  
...  

ABSTRACT Background The number of gluten-free diet followers without celiac disease (CD) is increasing. However, little is known about the characteristics of these individuals. Objectives We address this issue by investigating a wide range of genetic and phenotypic characteristics in association with following a gluten-free diet. Methods The cross-sectional association between lifestyle and health-related characteristics and following a gluten-free diet was investigated in 124,447 women and men aged 40–69 y from the population-based UK Biobank study. A genome-wide association study (GWAS) of following a gluten-free diet was performed. Results A total of 1776 (1.4%) participants reported following a gluten-free diet. Gluten-free diet followers were more likely to be women, nonwhite, highly educated, living in more socioeconomically deprived areas, former smokers, have lost weight in the past year, have poorer self-reported health, and have made dietary changes as a result of illness. Conversely, these individuals were less likely to consume alcohol daily, be overweight or obese, have hypertension, or use cholesterol-lowering medication. Participants with hospital inpatient diagnosed blood and immune mechanism disorders (OR: 1.62; 95% CI: 1.18, 2.21) and non-CD digestive system diseases (OR: 1.58; 95% CI: 1.42, 1.77) were more likely to follow a gluten-free diet. The GWAS demonstrated that no genetic variants were associated with being a gluten-free diet follower. Conclusions Gluten-free diet followers have a better cardiovascular risk profile than non-gluten-free diet followers but poorer self-reported health and a higher prevalence of blood and immune disorders and digestive conditions. Reasons for following a gluten-free diet warrant further investigation.


Nutrients ◽  
2020 ◽  
Vol 12 (1) ◽  
pp. 156 ◽  
Author(s):  
Mónica Villanueva ◽  
Amaya Oyarzún ◽  
Bárbara Leyton ◽  
Mónica González ◽  
Elizabeth Navarro ◽  
...  

The frequency of celiac disease (CD) has increased along time, with relevant changes reported in geographical variations, clinical presentation and nutritional repercussions. In recent years, some celiac patients are presenting overweight/obesity, but it is unclear how frequent this is and to what extent undernutrition remains a concern. This is relevant because CD tends to be overlooked in overweight patients. With this in mind, we assessed age at diagnosis, clinical characteristics and nutritional status of 155 celiac patients diagnosed between 1994–2017 in four pediatric hospitals in Santiago, Chile. Since 2003, the number of patients diagnosed has increased (p < 0.0033), coinciding with antitransglutaminase and antiendomysial antibodies becoming available to public health systems. In 2000, 4.5% of patients were asymptomatic at diagnosis, suggesting that active search is not routinely applied. Gastrointestinal symptoms plus failure to thrive were significantly more frequent under 2 years (p = 0.0001). Nutritional status has improved at diagnosis and during follow up, but undernutrition remains more frequent in children <2 and <5 years (p < 0.002 and p < 0.0036, respectively). Overweight at diagnosis was reported in 2002 and obesity in 2010. After initiating treatment, since 2010, patients changing from undernourishment to overweight has sometimes been observed after only 6 months on a gluten-free diet.


Sign in / Sign up

Export Citation Format

Share Document