Description of a clinical case of combination of celiac disease and ichthyosis in a girl

Abstract Introduction. Celiac disease, or gluten-sensitive enteropathy, can be defined as a persistent intolerance of wheat gliadins and other cereal prolamines in the small intestinal mucosa of genetically susceptible individuals. The clinical picture of the disease can often be misleading because it varies greatly from patient to patient, resulting in delayed diagnosis.To analyze the clinical case of a child with celiac disease and acquired ichthyosis.Results. The disease, until a final diagnosis was established, had a severe course due to gastrointestinal and dermatological disorders. From the age of 1.5 years, the child had frequent diarrhea, bloating, which is why she was repeatedly hospitalized in the hospital at the place of residence. However, there was no effect from the ongoing therapeutic measures, and other symptoms such as vomiting, peripheral edema, deficiency of height and weight, and severe peeling of the skin joined in. The diagnosis was finally confirmed at the age of 2.5 years after the test for antibodies to tissue transglutaminase IgA (fifty-fold excess relative to the norm). A genetic study revealed alleles of genes responsible for predisposition to celiac disease. The results of a biopsy of the mucous membrane of the duodenum had signs of atrophy, lymphoid infiltration, corresponding to a lesion of the small intestine according to the classification Marsh III. Microscopic examination of the skin – hyperkeratosis with a decrease in the granular layer. On the basis of the obtained data, the diagnosis was made: Celiac disease, active phase, severe course, complicated by proteinenergy insufficiency severe degree, exudative enteropathy syndrome, 2 degree anemia, concomitant diagnosis: acquired ichthyosis. The girl was prescribed a gluten-free diet, and symptomatic drug therapy was carried out. In dynamics, the condition has improved. After 6 months, at the second visit, gastrointestinal and skin symptoms were absent, physical development was age-appropriate.Conclusions. The classic form of celiac disease usually manifests itself with several major symptoms, such as diarrhea, abdominal pain, weight loss, and nutritional deficiencies. In this article we wanted to talk about a rare combination of celiac disease with ichthyosis, therefore, practitioners should be wary of a combination of skin and gastrointestinal symptoms.

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Celiac disease in first degree relatives of celiac children

Arquivos de Gastroenterologia ◽

10.1590/s0004-28032012000300007 ◽

2012 ◽

Vol 49 (3) ◽

pp. 204-207 ◽

Cited By ~ 6

Author(s):

Andreia Oliveira ◽

Eunice Trindade ◽

Marta Tavares ◽

Rosa Lima ◽

Mariana Terra ◽

...

Keyword(s):

Celiac Disease ◽

High Risk ◽

Screening Test ◽

Tissue Transglutaminase ◽

Gastrointestinal Symptoms ◽

Rapid Test ◽

Risk Groups ◽

High Titre ◽

High Risk Group ◽

First Degree Relatives

CONTEXT - The first degree relatives of celiac patients represent a high risk group for the development of this disorder, so their screening may be crucial in the prevention of long-term complications. OBJECTIVE - In order to determine the prevalence of celiac disease in a group of first degree relatives of children with proven gluten intolerance, we conducted a prospective study that consisted in the screening of celiac disease, using a capillary immunoassay rapid test that allows a qualitative detection of IgA antibody to human recombinant tissue transglutaminase (IgA-TTG). METHODS - When the screening test was positive subjects were advised to proceed with further investigation. The screening test was performed in 268 first degree relatives (143 mothers, 89 fathers, 36 siblings) corresponding to 163 children with celiac disease. RESULTS - Screening test was positive in 12 relatives (4.5%), of which 1 refused to continue the investigation. In the remaining 11 relatives celiac disease was diagnosed in 7 cases (2.6%, 5 mothers, 2 fathers) who had a median age of 39 years (27-56 years), mild gastrointestinal symptoms, high titre of IgA-TTG and histology abnormalities confirming the diagnosis. All these patients are currently on a gluten-free diet. CONCLUSION - The prevalence of celiac disease among first degree relatives (2.6%) was 5 times higher than that in the general population. Although the recommendations for screening asymptomatic high risk groups, such as first degree relatives, are not unanimous the early diagnosis is crucial in preventing complications, including nutritional deficiency and cancer.

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Dermatomyositis Associated with Celiac Disease: Response to a Gluten-Free Diet

Canadian Journal of Gastroenterology ◽

10.1155/2006/574074 ◽

2006 ◽

Vol 20 (6) ◽

pp. 433-435 ◽

Cited By ~ 20

Author(s):

Min Soo Song ◽

David Farber ◽

Alain Bitton ◽

Jeremy Jass ◽

Michael Singer ◽

...

Keyword(s):

Celiac Disease ◽

Adult Population ◽

Gastrointestinal Symptoms ◽

Human Leukocyte ◽

Gluten Free Diet ◽

Nutritional Deficiencies ◽

Deficiency Anemia ◽

Gluten Free ◽

Disease Response ◽

Vitamin Deficiencies

The association between dermatomyositis and celiac disease in children has been well documented. In the adult population, however, the association has not been clearly established. A rare case of concomitant dermatomyositis and celiac disease in a 40-year-old woman is presented. After having been diagnosed with dermatomyositis and iron deficiency anemia, this patient was referred to the gastroenterology clinic to exclude a gastrointestinal malignancy. Blood tests revealed various vitamin deficiencies consistent with malabsorption. The results of gastroscopy with duodenal biopsy were consistent with celiac disease. After she was put on a strict gluten-free diet, both nutritional deficiencies and the dermatomyositis resolved. The patient’s human leukocyte antigen haplotype study was positive for DR3 and DQ2, which have been shown to be associated with both juvenile dermatomyositis and celiac disease. It is suggested that patients with newly diagnosed dermatomyositis be investigated for concomitant celiac disease even in the absence of gastrointestinal symptoms.

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Gluten and FODMAPS—Sense of a Restriction/When Is Restriction Necessary?

Nutrients ◽

10.3390/nu11081957 ◽

2019 ◽

Vol 11 (8) ◽

pp. 1957 ◽

Cited By ~ 9

Author(s):

Walburga Dieterich ◽

Yurdagül Zopf

Keyword(s):

Celiac Disease ◽

Clinical Symptoms ◽

Gastrointestinal Symptoms ◽

Nutritional Deficiencies ◽

Symptom Improvement ◽

Standard Diet ◽

Gluten Free ◽

First Choice ◽

Irritable Bowel ◽

Fodmap Diet

Gluten-free diet (GFD) is enjoying increasingly popularity, although gluten-free products are considerably more expensive. GFD is absolutely necessary for patients with celiac disease, as in this case even minor amounts of gluten can lead to the destruction of the intestinal mucosa. In addition, GFD is currently the best therapy to improve clinical symptoms of patients with non-celiac gluten sensitivity (NCGS), although the diet may not be as strict as that for patients with celiac disease. Beside gluten, other wheat components such as oligosaccharides and amylase trypsin inhibitors are discussed as triggers of NCGS in this review. An overlap between gastrointestinal symptoms in NCGS and irritable bowel syndrome (IBS) is described. Patients with NCGS attribute their symptoms to the consumption of gluten, while patients with IBS rarely describe gluten as a trigger. Recently, several studies have demonstrated that the introduction of a low FODMAP (fermentable oligo-, di-, monosaccharides, and polyols) diet reduced gastrointestinal symptoms in patients with IBS and this diet is suggested as the first choice of therapy in IBS. However, a low FODMAP diet also eliminates prebiotica and may negatively influence the gut microbiota. For this reason, the diet should be liberalized after symptom improvement. There is no evidence that a GFD is healthier than the standard diet. In contrast, GFD often is accompanied by nutritional deficiencies, mainly minerals and vitamins. Therefore, GFD and low FODMAP diets are not recommended for healthy subjects. Since wheat contains fructans belonging to FODMAPs), a GFD is not only gluten-free but also has less FODMAPs. Thus, symptom improvement cannot be correctly correlated with the reduction of either one or the other.

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Testing for Antireticulin Antibodies in Patients with Celiac Disease Is Obsolete: a Review of Recommendations for Serologic Screening and the Literature

Clinical and Vaccine Immunology ◽

10.1128/cvi.00568-12 ◽

2013 ◽

Vol 20 (4) ◽

pp. 447-451 ◽

Cited By ~ 4

Author(s):

Sarada L. Nandiwada ◽

Anne E. Tebo

Keyword(s):

Celiac Disease ◽

Tissue Transglutaminase ◽

Clinical Manifestations ◽

Autoimmune Disorder ◽

Diagnostic Use ◽

Gliadin Peptide ◽

Gluten Sensitive Enteropathy ◽

Serologic Screening ◽

Related Proteins ◽

Hla Dq2

ABSTRACTCeliac disease (CD) is an autoimmune disorder that occurs in genetically susceptible individuals of all ages and is triggered by immune response to gluten and related proteins. The disease is characterized by the presence of HLA-DQ2 and/or -DQ8 haplotypes, diverse clinical manifestations, gluten-sensitive enteropathy, and production of several autoantibodies of which endomysial, tissue transglutaminase, and deamidated gliadin peptide antibodies are considered specific. Although antireticulin antibodies (ARA) have historically been used in the evaluation of CD, these assays lack optimal sensitivities and specificities for routine diagnostic use. This minireview highlights the advances in CD-specific serologic testing and the rationale for eliminating ARA from CD evaluation consistent with recommendations for diagnosis.

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Screening for Celiac Disease in Children with Dental Enamel Defects

ISRN Pediatrics ◽

10.5402/2012/763783 ◽

2012 ◽

Vol 2012 ◽

pp. 1-7 ◽

Cited By ~ 10

Author(s):

Mostafa Abdel-Aziz El-Hodhod ◽

Iman Ali El-Agouza ◽

Hala Abdel-Al ◽

Noha Samir Kabil ◽

Khaled Abd El-Moez Bayomi

Keyword(s):

Celiac Disease ◽

Serum Calcium ◽

Tissue Transglutaminase ◽

Gastrointestinal Symptoms ◽

Dental Enamel ◽

Deciduous Teeth ◽

Control Group ◽

Normal Children ◽

Enamel Defects ◽

Calcium Phosphorus

Background. Dental enamel defects (DEDs) are seen in celiac disease (CD). Aim was to detect frequency of CD among such patients. Methods. This study included 140 children with DED. They were tested for CD. Gluten-free diet (GFD) was instituted for CD patients. A cohort of 720, age and sex-matched, normal children represented a control group. Both groups were evaluated clinically. Serum calcium, phosphorus, alkaline phosphatase, serum IgA, and tissue transglutaminase (tTG) IgG and IgA types were measured. Results. CD was more diagnosed in patients with DEDs (17.86%) compared to controls (0.97%) (P<0.0001). Majority of nonceliac patients showed grade 1 DED compared to grades 1, 2, and 3 DED in CD. Five children had DED of deciduous teeth and remaining in permanent ones. After 1 year on GFD, DED improved better in CD compared to nonceliac patients. Gastrointestinal symptoms did not vary between celiac and nonceliac DED patients. Lower serum calcium significantly predicted CD in this cohort. Conclusion. CD is more prevalent among children with DED than in the general population. These DEDs might be the only manifestation of CD; therefore, screening for CD is highly recommended among those patients especially in presence of underweight and hypocalcemia.

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Review: dermatitis herpetiformis

Anais Brasileiros de Dermatologia ◽

10.1590/abd1806-4841.20131775 ◽

2013 ◽

Vol 88 (4) ◽

pp. 594-599 ◽

Cited By ~ 23

Author(s):

Fernanda Berti Rocha Mendes ◽

Adaucto Hissa-Elian ◽

Marilda Aparecida Milanez Morgado de Abreu ◽

Virgínica Scaff Gonçalves

Keyword(s):

Dermatitis Herpetiformis ◽

Tissue Transglutaminase ◽

Strong Association ◽

Immunoglobulin A ◽

Dermal Papilla ◽

Small Intestinal Mucosa ◽

Adult Celiac Disease ◽

Gluten Sensitive Enteropathy ◽

Hla Dr3

Dermatitis herpetiformis (DH) or Duhring-Brocq disease is a chronic bullous disease characterized by intense itching and burning sensation in the erythematous papules and urticarial plaques, grouped vesicles with centrifuge growth, and tense blisters. There is an association with the genotypes HLA DR3, HLA DQw2, found in 80-90% of cases. It is an IgA-mediated cutaneous disease, with immunoglobulin A deposits appearing in a granular pattern at the top of the dermal papilla in the sublamina densa area of the basement membrane, which is present both in affected skin and healthy skin. The same protein IgA1 with J chain is found in the small intestinal mucosa in patients with adult celiac disease, suggesting a strong association with DH. Specific antibodies such as antiendomysium, antireticulina, antigliadin and, recently identified, the epidermal and tissue transglutaminase subtypes, as well as increased zonulin production, are common to both conditions, along with gluten-sensitive enteropathy and DH. Autoimmune diseases present higher levels of prevalence, such as thyroid (5-11%), pernicious anemia (1-3%), type 1 diabetes (1-2%) and collagen tissue disease. The chosen treatment is dapsone and a gluten-free diet.

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Rare Neurological Manifestation of Celiac Disease

Case Reports in Gastroenterology ◽

10.1159/000431170 ◽

2015 ◽

Vol 9 (2) ◽

pp. 200-205 ◽

Cited By ~ 9

Author(s):

Uzma Rani ◽

Aamer Imdad ◽

Mirza Beg

Keyword(s):

Celiac Disease ◽

Psychiatric Symptoms ◽

Tissue Transglutaminase ◽

Clinical Manifestations ◽

Gastrointestinal Symptoms ◽

Pseudotumor Cerebri ◽

Neurological Manifestation ◽

Upper Gastrointestinal Endoscopy ◽

Blurred Vision ◽

And Behavior

Celiac disease (CD) is an immune-mediated disease characterized by permanent gastrointestinal tract sensitivity to gluten in genetically predisposed individuals. It has varied clinical manifestations, ranging from gastrointestinal to extraintestinal, including neurological, skin, reproductive and psychiatric symptoms, which makes its diagnosis difficult and challenging. Known neurological manifestations of CD include epilepsy with or without occipital calcification, attention deficit hyperactivity disorder and ataxia, headache, neuropathies and behavior disorders. We present the case of a 14-year-old female with headaches and blurred vision for 1 year; she was noted to have papilledema on ophthalmic examination with increased cerebrospinal fluid opening pressure on lumber puncture and was diagnosed as a case of pseudotumor cerebri (PTC). Meanwhile her workup for chronic constipation revealed elevated tissue transglutaminase IgA and antiendomysial IgA antibodies. Upper gastrointestinal endoscopy with duodenal biopsy confirmed the diagnosis of CD. The patient was started on a gluten-free diet, leading to resolution of not only gastrointestinal symptoms but also to almost complete resolution of symptoms of PTC. This report describes the correlation of CD and PTC as its neurological manifestation.

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GGLUTEN-SENSITIVE ENTEROPATHY - NEW VIEW ON PROBLEM

10.52340/csw.2021.623 ◽

2021 ◽

Author(s):

Tsitsi Parulava ◽

David Pruidze ◽

Maia Chkhaidze ◽

Tamar Gotua ◽

Irma Mandjavidze

Keyword(s):

Celiac Disease ◽

Tissue Transglutaminase ◽

Age Groups ◽

Failure To Thrive ◽

Elimination Diet ◽

Epidemiologic Studies ◽

Intestinal Biopsy ◽

Common Symptom ◽

Small Intestinal Biopsy ◽

Gluten Sensitive Enteropathy

Gluten sensitive enteropathy-celiac disease is an immune-mediated disorder caused by permanent sensitivity to gluten in genetically susceptible individuals. Epidemiologic studies of last years suggest that it is common and may occur in 0,5-1% of the general population. The bowel inﬂammatory and immunologic response results in atrophy and damage in the small bowel and secondary malabsorbtion. The mode of presentation can be quite variable. Celiac disease is generally deﬁned as chronic diarrea and failure to thrive in infants and toddlers, diarrhea is still the most common symptom, but disease may occure in different age groups and with exstraintestinal, sometimes monosymptomic clinic. Clinical forms of celiac disease are: classic, atypical, silent, latent and potential. Deﬁnitive diagnose of Celiac disease requires serrologic screening, small intestinal biopsy and effectiveness of elimination diet. Anti-tissue transglutaminase antybody test (TTG IgA and TTG IgG) is highly sensitive, speciﬁc and less expensive, thus is recommended for general practice. None of serologic tests are 100% reliable. Deﬁnitive diagnosis requires characteristic histologic changes in intestine mucus. Tissue for investigation may be taken from duodenum during gastro endoscopy. Diagnosing only by results of gluten-free diet is not correct. The only treatment for celiac disease is lifelong exclusion of gluten. Early diagnosis and strict dietary restrictions appear to be the only possibility of prevention risk for failure to thrive, delay of sexual maturity, autoimmune disorders, adenocarcinoma of gastrointestinal tract and lymphoma.

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Short stature as a significant marker in celiac disease

International Journal of Contemporary Pediatrics ◽

10.18203/2349-3291.ijcp20193153 ◽

2019 ◽

Vol 6 (5) ◽

pp. 1855

Author(s):

Jasraj Bohra ◽

Virendra K. Gupta ◽

Ashok Gupta

Keyword(s):

Celiac Disease ◽

Short Stature ◽

Tissue Transglutaminase ◽

Gastrointestinal Symptoms ◽

Cross Sectional Study ◽

Anthropometric Measurement ◽

Clinical Feature ◽

Serum Samples ◽

Cross Sectional ◽

The Difference

Background: Celiac disease (CD) is a genetically determined gluten-sensitive enteropathy resulting in nutrient malabsorption, can have extra gastrointestinal tract (GIT) presentations, short stature may be the only presenting clinical feature, even in the absence of gastrointestinal symptoms. The aim and objective of this study was toMethods: This cross-sectional study was performed on 1000 children between ages 5 to 10 year of different schools, in Jaipur, district of Rajasthan. An anthropometric measurement (height, weight) was done for all children. Serum samples were analyze for IgA antibodies to human tissue transglutaminase (tTG) with lower detection limit of 1.0 U/ml and 15 U/ml. Positive samples for tTG antibodies were reanalyzed human endomysial autoantigens (EmA).Results: Out 1000 children screened, six were seropositive, of those four were females and two were males. The serological proportion of CD in this population was 1:166. These Six seropositive group tends to have lower height, weight than the seronegative group, but the difference was only significant for height (P=<0.01).Conclusions: Although gastrointestinal manifestations are important presentation of celiac disease, nevertheless short stature alone or in combination with other symptoms of celiac disease has been present.

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The Anti-Saccharomyces Cerevisiae Antibody Assay in a Province-Wide Practice: Accurate in Identifying Cases of Crohn’s Disease and Predicting Inflammatory Disease

Canadian Journal of Gastroenterology ◽

10.1155/2005/147681 ◽

2005 ◽

Vol 19 (12) ◽

pp. 717-721 ◽

Cited By ~ 13

Author(s):

Brinderjit Kaila ◽

Kenneth Orr ◽

Charles N Bernstein

Keyword(s):

Saccharomyces Cerevisiae ◽

Ulcerative Colitis ◽

Crohn’S Disease ◽

Celiac Disease ◽

Crohn's Disease ◽

Inflammatory Disease ◽

Gastrointestinal Symptoms ◽

Final Diagnosis ◽

Elisa Test ◽

Indeterminate Colitis

OBJECTIVE: To determine the utility of the anti-Saccharomyces cerevisiae antibody (ASCA) ELISA test developed in Manitoba in 2001 in a population-wide sample referred from physicians across Manitoba in their investigation of patients with gastrointestinal symptoms.METHODS: Patients whose serum was referred for ASCA testing in 2001 and 2002 were eligible for the present study. ELISA was performed by a technologist, blind to patient diagnoses. A single investigator contacted physicians to facilitate chart review. Data collected included demographics, final diagnoses and tests used to substantiate the final diagnosis.RESULTS: Of 482 subjects identified, 410 charts were available for review and 29 of those were unavailable for follow-up or had incomplete charts. The present study population included Crohn's disease (CD, n=114), ulcerative colitis (n=74), indeterminate colitis (n=31), celiac disease (n=9), irritable bowel syndrome (n=75), other diagnoses (n=33) and no disease (n=45). ASCA had a sensitivity of 37% (95% CI 27.8 to 46.8) and specificity of 97% (95% CI 93.8 to 98.6) for diagnosing CD and an odds ratio for a diagnosis of CD of 18.4 (95% CI 8.2 to 41.3). The 47 ASCA-positive patients included the following diagnoses: CD=39, ulcerative colitis=3, indeterminate colitis=1, celiac disease=3 and no disease=1. The likelihood of having an inflammatory disease if ASCA is positive was nearly 40-fold.CONCLUSION: A positive ASCA test using this assay nearly clinches a diagnosis of some form of inflammatory intestinal disease, which is highly likely to be CD. In symptomatic patients, a positive ASCA test should encourage the clinician to pursue further investigations

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