HLA-DQB1 Haplotypes and their Relation to Oral Signs Linked to Celiac Disease Diagnosis

Objectives: Celiac disease (CD) is an autoimmune disorder that can be divided into typical and atypical forms. Atypical forms can show extraintestinal manifestations among which oral signs are very frequent. Considering that the pathogenesis of CD is related to a positivity to specific HLA-DQB1 haplotypes, we tested whether the presence of the HLA-DQB1*02 allele could be a hypothetical cause of the development of oral manifestations. Subjects and Methods: For this study was been examined the oral condition of 98 Sardinian patients, all affected by CD and all on a gluten-free diet for at least 1 year. Then was been determined each patient’s HLA-DQB1 haplotype and compared these results with clinical information. Results: The statistical analysis evidenced that the absence of the HLA-DQB1*02 allele predisposes to oral manifestations such as dental enamel defects (DED) and recurrent aphthous stomatitis (RAS) (Pvalue=5.98x10-05, OR = 0.23, CI: (0.10 - 0.45) per each copy of the HLA allele). Conclusions: These results showed that the presence of the HLA-DQB1*02 allele influences the development of oral signs in a dose-dependent manner and also how the HLA haplotype connected to oral signs could have a fundamental role for the diagnosis of atypical forms of CD.

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Celiac disease: diagnosis and dilemmas

Romanian Journal of Medical Practice ◽

10.37897/rjmp.2016.2.17 ◽

2016 ◽

Vol 11 (2) ◽

pp. 204-207

Author(s):

Irina Manuela MUCENICA ◽

◽

Ancuţa IGNAT ◽

Gabriela PĂDURARU ◽

Andrada DRUICĂ ◽

...

Keyword(s):

Weight Loss ◽

Celiac Disease ◽

Clinical Case ◽

Dermatitis Herpetiformis ◽

Autoimmune Disorder ◽

Hepatic Function ◽

Disease Diagnosis ◽

Deficiency Anemia ◽

Impaired Hepatic Function ◽

Celiac Disease Diagnosis

Celiac disease is an autoimmune disorder of the gastrointestinal tract. The condition may develop at any age, triggered by exposure to dietary gluten in genetically susceptible individuals. The most frequent intestinal manifestations include diarrhea and weight loss. Common extradigestive manifestations include iron deficiency anemia, dermatitis herpetiformis. The authors presents a clinical case diagnosed with celiac disease expressed with gastrointestinal and extradigestive symptoms, such as abdominal pain, flatulence, anemia, impaired hepatic function and dermatitis herpetiformis.

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Small bowel capsule endoscopy, a modern tool for celiac disease diagnosis - case presentation

ARS Medica Tomitana ◽

10.2478/arsm-2014-0016 ◽

2014 ◽

Vol 20 (2) ◽

pp. 86-90

Author(s):

Andra Iulia Suceveanu ◽

Laura Mazilu ◽

A. Suceveanu ◽

S. Paris ◽

F. Voinea ◽

...

Keyword(s):

Celiac Disease ◽

Sleep Disturbances ◽

Villous Atrophy ◽

Neuropsychiatric Symptoms ◽

Gastrointestinal Symptoms ◽

Immunological Response ◽

Autoimmune Disorder ◽

Disease Diagnosis ◽

Specific Pattern ◽

Celiac Disease Diagnosis

Abstract Celiac disease is a clinically heterogeneous disease characterized by an inadequate immunological response when patients with specific genetic phenotypes are exposed to gluten. This article presents a case of a young woman diagnosed in Gastroenterology Department of “ St. Andrew Apostle” Emergency Hospital of Constanta with celiac disease after multiple admissions into the hospital for unspecific symptoms such as pallor, fatigue, pirosis, weight loss and 1-2 soft stools/day. The history with period irregularities and infertility without a known cause, a recent unexplained bone fracture, the muscle weakness, neuropsychiatric symptoms characterized by sleep disturbances and irritability correlated with the biological features characterized by moderate feriprive anemia, Ca and Mg decreased level, thyroid autoimmune impairment and gastrointestinal symptoms raised the suspicion of an autoimmune disorder with multiple targets. The videcapsule endoscopy (VCE) revealed the specific pattern of the celiac disease: villous atrophy of jejunum, scalloping, absent folds and cobblestone mucosal pattern. Results were correlated with immunology tests results. The patient was transferred on a gluten free diet and the clinical and VCE controlsrevealed the healing of the jejunum mucosa. The VCE can be the tool for positive diagnosis of an unusual and heterogeneous celiac disease in patients with various symptoms without an apparent cause.

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Australasian Pediatric Gastroenterologists’ Perspectives and Practices of Celiac Disease Diagnosis and Management

Digestive Diseases and Sciences ◽

10.1007/s10620-021-06988-2 ◽

2021 ◽

Author(s):

Shaun S. C. Ho ◽

Sophie Hall ◽

Jacqueline I. Keenan ◽

Andrew S. Day

Keyword(s):

Celiac Disease ◽

Disease Diagnosis ◽

Diagnosis And Management ◽

Celiac Disease Diagnosis

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LOW BONE MINERAL DENSITY IN BRAZILIAN PATIENTS AT DIAGNOSIS OF CELIAC DISEASE

Arquivos de Gastroenterologia ◽

10.1590/s0004-28032015000300004 ◽

2015 ◽

Vol 52 (3) ◽

pp. 176-179 ◽

Cited By ~ 3

Author(s):

Joyce Timmermans Pires da SILVA ◽

Renato M NISIHARA ◽

Luís Roberto KOTZE ◽

Márcia OLANDOSKI ◽

Lorete Maria da Silva KOTZE

Keyword(s):

Bone Mineral Density ◽

Celiac Disease ◽

Bone Mineral ◽

Disease Diagnosis ◽

Bone Fragility ◽

Mineral Density ◽

X Ray ◽

Low Bone Mineral Density ◽

Celiac Disease Diagnosis ◽

Male Subjects

BackgroundLow bone mineral density is considered an extra-intestinal manifestation of celiac disease with reduced bone mass, increased bone fragility, and risk of fractures. Celiac disease is considered a condition at high risk for secondary osteoporosis and the evaluation of bone density is very important in the clinical management of these patients.ObjectiveThe present study aimed to investigate bone alterations in celiac patients from Curitiba, South Region of Brazil at diagnosis, correlating the findings with age and gender.MethodsPatients who were included in the study were attended to in a private office of the same physician from January 2009 to December 2013. The diagnosis of celiac disease was done through clinical, serological and histological findings. All data were collected from the medical charts of the patients. After the diagnosis of celiac disease, evaluation for low bone mineral density was requested by dual-energy X-ray absorptiometry (DEXA). DEXA bone densitometer was used to estimate low bone mineral density at the lumbar spine and femur.ResultsA total of 101 patients, 82 (81.2%) female and 19 (18.8%) male subjects, with mean age of 39.0±3.03 years were included. At celiac disease diagnosis, 36 (35.6%) were younger than 30 years, 41 (40.6%) were between 31 and 50 years, and 24 (23.8%) were older than 50 years. Among the evaluated patients, 69 (68.3%) presented low bone mineral density, being 47% with osteopenia and 32% with osteoporosis. Patients who were older than 51 years and diagnosed with celiac disease presented low bone mineral density in 83.3% (20/24) of the cases. As expected, age influenced significantly the low bone mineral density findings. Among women, low bone mineral density was present with high frequency (60%) from 30 to 50 years. In patients diagnosed older than 60 years (n=8), all the women (n=5) and two of the three men had osteoporosis.ConclusionThis study demonstrated that 69% of Brazilian patients with celiac disease at diagnosis had low bone mineral density, being more frequent in women older than 50 years.

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