Sign and Symptoms Celiac Disease in Children

Sign and Symptoms Celiac Disease in Children

Celiac disease (CD) may occur without any symptoms; asymptomatic or minimally symptomatic celiac disease is probably the most common form of the disease, especially in older children and adults. Celiac disease (CD) is the most common genetically related food intolerance, worldwide. Celiac disease is a multifactorial, autoimmune disorder that occurs in genetically susceptible individuals. It is triggered by a well-identified environmental factor (gluten and related prolamins present in wheat, rye, and barley), and the autoantigen is also well known (ie, the ubiquitous enzyme tissue transglutaminase). The disease primarily affects the small intestine, where it progressively leads to flattening of the small intestinal mucosa.

Within this definition, patients can further be defined as having silent, potential, or latent celiac disease. The term silent celiac disease refers to patients fulfilling the definition above, but presenting no symptoms. Typically, such diagnoses are made by screening asymptomatic individuals who are at increased risk for celiac disease. The term potential celiac disease describes patients who have specific serum autoantibodies and may or may not have symptoms consistent with celiac disease, but lack evidence of the autoimmune insult to the intestinal mucosa. A final category of celiac patients is represented by the so-called latent celiac disease: individuals with normal mucosal morphology (like the potential) but known to have had a gluten-dependent enteropathy at some point in their life.

The genetic susceptibility to celiac disease is conferred by well-identified haplotypes in the human leukocyte antigen (HLA) class II region (ie, DR3 or DR5/DR7 or HLA DR4). Such haplotypes are expressed on the antigen-presenting cells of the mucosa (mostly dendritic cells); approximately 90% of patients express the DQ2 heterodimer, and approximately 7% of patients express the DQ8 heterodimer. The remaining 3% of patients possess only half of the DQ2 heterodimer.

5 possible presentations of celiac disease are recognized, as follows:

  • Typical: This presentation is primarily characterized by GI signs and symptoms.
  • Atypical: GI signs and symptoms are minimal or absent, and various extraintestinal manifestations are present.
  • Silent: The small intestinal mucosa is damaged, and celiac disease autoimmunity can be detected with serology; however, no symptoms are present.
  • Potential: Patients have a positive specific autoimmune serology and may or may not be symptomatic, but the mucosa morphology is normal. These individuals have genetic compatibility with celiac disease and full-blown celiac disease may develop at a later stage in some or all of these individuals.
  • Latent: Individuals with normal mucosal morphology who “have had a gluten-dependent enteropathy at some point in their life.” This subset of patients is the rarest of the group.

Typical presentation

The so-called typical form of celiac disease presents with GI symptoms that characteristically appear at age 9-24 months. Symptoms begin at various times after the introduction of foods that contain gluten. Infants and young children typically present with chronic diarrhea, anorexia, abdominal distension, abdominal pain, poor weight gain or weight loss, and vomiting. Severe malnutrition can occur if the diagnosis is delayed. Behavioral changes are common and include irritability and an introverted attitude. Rarely, severely affected infants present with a celiac crisis, which is characterized by explosive watery diarrhea, marked abdominal distension, dehydration, hypotension, and lethargy, often with profound electrolyte abnormalities, including severe hypokalemia.

Older children with celiac disease who present with GI manifestations may have onset of symptoms at any age. The variability in the age of symptom onset possibly depends on the amount of gluten in the diet and other environmental factors, such as duration of breast feeding. In fact, in the author’s experience, if gluten is introduced during breast feeding, the symptoms tend to be less often GI related and tend to appear later in life. GI symptoms in older children are typically less evident and include nausea, recurrent abdominal pain, bloating, constipation, and intermittent diarrhea.

Atypical presentation

An increasing number of patients are being diagnosed without typical GI manifestations at older ages. A reasonable assumption is that approximately 70% of patients with newly diagnosed celiac disease do not present with the typical major GI symptoms. Once again, a relationship between the age of onset and the type of presentation is noted; in infants and toddlers, GI symptoms and failure to thrive predominate, whereas, during childhood, minor GI symptoms, inadequate rate of weight and height gain, and delayed puberty tend to be more common. In teenagers and young adults, anemia is the most common form of presentation. In adults and in the elderly, GI symptoms are more prevalent, although they are often minor. See the images below.

GI signs and symptoms of celiac disease.

GI signs and symptoms of celiac disease. Extraintestinal manifestations of celiac disease.

The main extraintestinal manifestations of celiac disease are as follows:

  • Dermatitis herpetiformis: A blistering skin rash that involves the elbows, knees, and buttocks are associated with dermal granular immunoglobulin (Ig) A deposits. The rash and mucosal morphology improve on a gluten-free diet. Dermatitis herpetiformis is a rare occurrence in childhood and is described almost exclusively in teenagers and adults.
  • Dental enamel hypoplasia: These enamel defects involve mostly the permanent dentition, although they have been described also in deciduous teeth. These changes may be the only presenting manifestation of celiac disease.
  • Aphthous ulcers: These can be present in children and in adults with celiac disease. At this time, it is unclear if these are associated with enamel defects, and their prevalence in celiac disease patients is variable. [23] Oral ulcers are neither characteristic nor specific for celiac disease since aphthous ulcers can also be associated with other medical conditions such as inflammatory bowel disease and Behçet disease. However, it should be noted that these ulcers often regress once the patients are on a gluten-free diet.
  • Delayed tooth eruption: This has been reported in up to 27% of patients with celiac disease. [23] This is a nonspecific sign, possibly related to malnutrition, and in conjunction with the rest of the oral examination could raise the suspicion of the dental clinician about the possibility of celiac disease.
  • Iron-deficiency anemia: In several studies, iron-deficiency anemia that is resistant to oral iron supplementation is reportedly the most common extraintestinal manifestation of celiac disease in adults. In children, iron deficiency with or without anemia is very common too, but seldom it is seen as the only presenting sign. Anemia can only be the result of folate, vitamin B-12 deficiency, and it may also coexist with anemia of chronic disease as a result of the chronic intestinal inflammation. In addition to anemia, a number of less common hematologic manifestations can be seen, including hyposplenism, thrombocytosis, and selective IgA deficiency. [24]
  • Short stature and delayed puberty: Short stature may be the only manifestation of celiac disease. As many as 10% of children with idiopathic short stature may have celiac disease that can be detected on serologic testing. Some patients with short stature also have impaired growth hormone production following provocative stimulation testing; this production returns to normal when the patient is put on a gluten-free diet. Adolescent girls with untreated celiac disease may have delayed onset of menarche.
  • Chronic hepatitis and hypertransaminasemia: Patients with untreated celiac disease commonly have elevated transaminase levels (alanine aminotransferase [ALT], aspartate aminotransferase [AST]). As many as 9% of patients with elevated transaminase levels of unclear etiology may have silent celiac disease. Liver biopsy findings in these patients reveal nonspecific reactive hepatitis. In most cases, liver enzymes normalize on a gluten-free diet.
  • Arthritis and arthralgia: Arthritis can be a common extraintestinal manifestation of adults with celiac disease, including those on a gluten-free diet. As many as 3% of children with juvenile chronic arthritis may have celiac disease.
  • Osteopenia and osteoporosis: Approximately 50% of children and 75% of adults have a low bone mineral density at the time of diagnosis; this low density reaches severe degrees, including osteoporosis. Bone mineral density improves in most patients on gluten-free diet and returns to normal as soon as 1 year after starting the diet in children. However, the response to the diet can be much less marked in adults.
  • Neurological problems: Numerous neurological conditions have been attributed to celiac disease in adults and, to a lesser extent, in children.  Celiac disease may cause occipital calcifications and intractable epilepsy; these patients can be resistant to antiseizure medicines but can benefit from a gluten-free diet if it is started soon after onset of seizures. The association with cerebellar ataxia is well described in adults; the term gluten-induced ataxia has been proposed.
  • Psychiatric disorders: Although a large number of behavioral problems and disorders (eg, autism, attention deficit hyperactivity disorder) have been thought to be caused by celiac disease, no evidence has been conclusive. However, celiac disease can be associated with some psychiatric disorders, such as depression and anxiety. These conditions can be severe and usually respond to a gluten-free diet. [#fertilityandceliacdisease]
  • Subfertility or infertility: Although somewhat controversial, reports have indicated that as many as 6% of women who experience infertility or repeated miscarriages have celiac disease. Some studies recommend increased screening for celiac disease in pregnant women; however, screening is associated with its own risks and expense. Because of the potential serious effects of undiagnosed celiac disease on the outcome of pregnancy, the need for screening pregnant women for celiac disease is currently under investigation.

Associated diseases

  • Celiac disease is also known to be strongly associated with numerous disorders, specifically with autoimmune conditions and genetic syndromes (eg, Down syndrome, Williams syndrome, Turner syndrome).
  • The association of celiac disease with autoimmune conditions is well known. A strong positive correlation between the age at diagnosis and the prevalence of autoimmune disorders (eg, type 1 diabetes mellitus, thyroiditis, alopecia) is recognized; this suggests that the continuous ingestion of gluten before diagnosis may induce the development of other autoimmune conditions.

Type 1 diabetes mellitus

  • Approximately 10% of patients with type 1 diabetes mellitus have typical findings of celiac disease on duodenal biopsy samples.
  • Many individuals with type 1 diabetes mellitus who initially had negative serological test results for celiac disease eventually had positive findings; this highlights the need for repeated testing.
  • Because celiac disease only occurs with specific human leukocyte antigen (HLA) haplotypes, an algorithm based on the determination of these HLA haplotypes has been proposed to avoid repeat testing in all patients with diabetes; this allows patients with diabetes in whom the HLA haplotypes are inconsistent with celiac disease to avoid repeat testing.
  • Typically, diagnosis of diabetes precedes diagnosis celiac disease by years; celiac disease in these patients most commonly presents with mild GI symptoms or absent symptoms. Because some of these symptoms are also seen in patients with diabetes (eg, bloating, diarrhea), diagnosis of celiac disease may be missed unless a screening is performed.
  • Although no convincing evidence has suggested that a gluten-free diet has any obvious effect on diabetes, these patients must follow the diet to prevent all long-term complications of celiac disease. Thus, screening patients with type 1 diabetes mellitus for celiac disease seems well founded.
  • Of interest, while the increased prevalence of celiac disease in patients with type 1 diabetes is well recognized, the reverse is not true: there seems to be no increased prevalence of type 1 diabetes in patients who had been diagnosed with celiac disease.

Down syndrome

  • The best documented and most well-known nonautoimmune disorder associated with celiac disease is Down syndrome.
  • As assessed by screening methods, the prevalence of Down syndrome in celiac disease is 8-12%.
  • Most patients with Down syndrome who have celiac disease have some GI symptoms, such as abdominal bloating, intermittent diarrhea, anorexia, or failure to thrive; however, about one third of these patients do not have GI symptoms.
  • As with patients who have type 1 diabetes mellitus, periodic serologic testing is indicated only in patients with Down syndrome who are genetically compatible with celiac disease (ie, those who have either HLA DQ2 or DQ8).
  • A similar strategy should be applied for patients with Turner syndrome or Williams syndrome, in whom an increased incidence of celiac disease has also been reported.

References:

  • Guandalini S, Setty M. Celiac disease. Curr Opin Gastroenterol. Nov 2008;24(6):707-12.
  • Husby S, Koletzko S, Korponay-Szabó IR, Mearin ML, Phillips A, Shamir R, et al. European Society for Pediatric Gastroenterology, Hepatology, and Nutrition guidelines for the diagnosis of coeliac disease. J Pediatr Gastroenterol Nutr. Jan 2012;54(1):136-60.
  • Guandalini S, ed. Celiac Disease. In. Textbook of Pediatric Gastroenterology and Nutrition. London: Taylor & Francis;. 2004: 435-50.
  • Baydoun A, Maakaron JE, Halawi H, Abou Rahal J, Taher AT. Hematological manifestations of celiac disease. Scand J Gastroenterol. Dec 2012;47(12):1401-11.
  • Lionetti E, Francavilla R, Pavone P, et al. The neurology of coeliac disease in childhood: what is the evidence? A systematic review and meta-analysis. Dev Med Child Neurol. Mar 19 2010
  • Vajro P, Paolella G, Maggiore G, Giordano G. Meta-Analysis: Pediatric Celiac Disease, Cryptogenic Hypertransaminasemia, and Autoimmune Hepatitis. J Pediatr Gastroenterol Nutr. Feb 22 2013

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