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Celiac disease presentation and symptoms

Dr. Schar Institute Symptoms Celiac disease Gluten intolerance Abdominal pain
Abdominal pain is a frequent symptom of celiac disease
The clinical picture of celiac disease has changed over recent years and symptoms are now recognized as being extremely diverse.
Typical or classic symptoms of celiac disease include altered bowel habits, weight loss, fatigue, abdominal pain and bloating, nausea and growth failure (in children). However, a range of additional symptoms or medical complications may also indicate the presence of celiac disease – including; iron deficiency anemia, osteoporosis, amenorrhea, vitamin and mineral deficiencies, unexplained infertility, neurological disturbances, thyroid and liver diseases [1,2].

Clinical Presentation [1]

Gastrointestinal symptoms or Classic presentation Extraintestinal symptoms or Atypical Presentation
  • Abdominal bloating or distention
  • Chronic diarrhea
  • Vomiting
  • Malabsorption
  • Weight loss
  • Failure to thrive/short stature
  • Abdominal pain
  • Constipation
  • Mouth Sores
  • Profuse vomiting
  • Anorexia
  • Anemia (iron, vitamin B12, folic acid)
  • Dental enamel defects
  • Aphthous ulcers
  • Anemia
  • Dermatitis Herpetiformis/skin manifestation and rash
  • Irritability
  • Alopecia
  • Arthritis
  • Osteoporosis/Osteopenia
  • Fractures
  • Short stature
  • Delayed puberty
  • Vitamin D deficiency
  • Amenorrhoea
  • Fertility disorders
  • Miscarriages
  • Abnormal liver enzymes
  • Chronic fatigue
  • Head aches
  • Numbness/neuropathy
  • Seizures
  • Mood and psychiatric changes

Silent Celiac Disease

Positive antibodies and positive biopsy without overt gastrointestinal or extraintestinal symptoms
Silent celiac is often found when screening high risk groups such as first degree relatives, individuals with Type 1 diabetes or Down syndrome.

Latent Celiac Disease

Positive or negative antibodies with negative biopsy
This group would also include those with the genetic markers (HLA-DQ2 or HLA-DQ8) but without positive antibodies or biopsy.
High risk groups such as immediate family members, individuals with Type 1 diabetes would fall into the category of negative antibodies and negative biopsy until celiac disease manifests itself.

Dermatitis herpetiformis

Dermatitis herpetiformis (DH) is the skin  manifestation of celiac disease triggered by the ingestion of gluten. It is characterised by the appearance of a patchy, itchy rash and small blisters, most commonly found bilaterally on the elbows, knees, buttocks and scalp. Unlike the gastrointestinal symptomatic manifestation of celiac disease, Dermatitis Herpetiformis is more common in men than in women. The overall population prevalence of 1:3,300. Even though less than 10% of patients with Dermatitis Herpetiformis have gut symptoms most have total or subtotal villous atrophy upon histological examination [3]. As in individuals presenting with the gastrointestinal symptoms of celiac disease, virtually all patients with Dermatitis Herpetiformis carry the HLA DQ2/DQ8 alleles.

Treatment of Dermatitis Herpetiformis
A strict, life-long gluten free diet is the mainstay of treatment for this condition. In the first month after diagnosis. Several drugs including Dapsone, sulfones or steroids, can be used to help decrease symptoms and inflammation. More than 70% of patients following a strict gluten free diet are able to slowly reduce their drug dose over time [4].
References
  1. James, S.P.(2005). National Institutes of Health consensus development conference statement on celiac disease, June 28-30, 2004. Gastroenterology; 128(4 Pt 2); S1    9.
  2. Celiac disease. Green PH, Lebwohl B, Greywoode R. J Allergy Clin Immunol. 2015 May;135(5):1099-106; quiz 1107. doi: 10.1016/j.jaci.2015.01.044. Review
  3. Fry L, Seah PP, Harper PG et al.The small intestine in dermatitis herpetiformis. J Clin Pathol 1974; 27:817-24
  4. Fry L. Leonard JN, Swain F et al. Long term follow up of dermatitis herpetiformis with and without dietary gluten withdrawal. Br J Dermatol 1982; 107:631-40

Further information on this topic

Professional articles 1

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Studies 1

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What is refractory celiac disease and how is it diagnosed? An insight into current research

Celiac disease can be divided into different types. This article describes refractory celiac disease, the diagnostic process and new testing procedures.

>> Read more... <<<
Author:
Schumann, M;
Year:
2014

Usefulness of Symptoms to Screen for Celiac Disease

Abstract

OBJECTIVE:
To describe the frequency of symptoms and associated conditions among screening-detected celiac disease (CD) cases and non-CD children and to evaluate questionnaire-based case-finding targeting the general population.

METHODS:
In a population-based CD screening of 12-year-olds, children and their parents completed questionnaires on CD-associated symptoms and conditions before knowledge of CD status. Questionnaire data for those who had their CD detected in the screening (n = 153) were compared with those of children with normal levels of CD markers (n = 7016). Hypothetical case-finding strategies were also evaluated. Questionnaires were returned by 7054 (98%) of the children and by 6294 (88%) of their parents.

RESULTS:
Symptoms were as common among screening-detected CD cases as among non-CD children. The frequency of children with screening-detected CD was similar when comparing the groups with and without any CD-related symptoms (2.1% vs 2.1%; P = .930) or CD-associated conditions (3.6% vs 2.1%; P = .07). Case-finding by asking for CD-associated symptoms and/or conditions would have identified 52 cases (38% of all cases) at a cost of analyzing blood samples for 2282 children (37%) in the study population.

CONCLUSIONS:
The current recommended guidelines for finding undiagnosed CD cases, so-called active case-finding, fail to identify the majority of previously undiagnosed cases if applied in the general population of Swedish 12-year-olds. Our results warrant further studies on the effectiveness of CD case-finding in the pediatric population, both at the clinical and population-based levels.

Resource: Pediatrics. 2014 Feb;133(2):211-8. doi: 10.1542/peds.2012-3765. Epub 2014 Jan 13
 
Author:
Rosén, A; Sandström, O; Carlsson, A; et al.;
Year:
2014 January
Languages:
English;
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