Name: Celiac Disease Test Panel
SKU: 65
Price: 135.00 USD
Availability: InStock

Description

DQ2/DQ8 & HLA-DQ Risk Assessment For Celiac Disease

A chronic immune mediated disorder triggered by gluten ingestion.

Common (More than 200,000 cases per year in US)

Treatments can help manage condition, no known cure

Often requires lab test or imaging

Family history may increase likelihood

Emergency room visit recommended in severe cases

Celiac Disease is a chronic gluten-intolerance that occurs in genetically predisposed individuals. In gluten-sensitive individuals, the ingestion of gluten causes chronic inflammation of the small intestinal mucosa leading to villous atrophy and nutrient malabsorption. Celiac Disease DNA Testing can assess the genetic risk for developing the condition. The prevalence of Celiac Disease is estimated at about 1:100 in Caucasians, and it occurs more often in females with a gender ratio of about two-to-one. Furthermore, gluten intolerance is more frequent in at-risk groups, such as first-degree relatives of patients as well as individuals with specific genetic syndromes (Down, Turner, Williams) or autoimmune diseases (type I diabetes, thyroiditis and multiple sclerosis).

Symptoms

The signs and symptoms may vary between children & adults. Mild cases do not show any symptoms. Some of the common typical signs & symptoms of celiac disease include:

Vomiting
Poor appetite
Bloating
Flatulence
Abdominal pain
Diarrhea
Constipation
Weight loss
Irritability
Short stature
Changes in mood such as anxiety
Tingling numbness in the hands & feet
Seizures
Irregular periods, infertility or recurrent miscarriage
Canker sores inside the mouth
Thinning hair & dull skin

Most of the adults have symptoms unrelated to the digestive system such as:

Anemia
Osteoporosis (or) osteomalacia
Blisters and skin rashes that itch
Damage to the dental enamel
Ulcers in the mouth
Fatigue
Damage to the nervous system
Ache in the joints and in the head
Reduced functioning of the spleen (hyposplenism)
Acid reflux & heartburn

Self-Care

The only way to manage this condition is to follow a strict gluten free diet.

Life-long, strict gluten-free diet
Lactose-free diet
Daily multivitamin and calcium
Folic acid for all women of child-bearing age

Nutrition

The following are foods that contain gluten and therefore, should be avoided:

Wheat
Durum
Malt
Rye
Bulgur
Barley
Farina
Graham flour
Semolina

Some of the safe to eat gluten-free food for people with celiac disease:

Meat
Fish
Fruit and vegetables
Rice
Potatoes
Lentils

Clinical Utility

Celiac disease is a multifactorial disorder in which specific HLA-DQA1 and HLA-DQB1 alleles represent the major genetic predisposition. HLA typing allows a patient assessment of their relative risk. This means a positive test is indicative of genetic susceptibility but does not necessarily mean the disease is actively developing. A negative test result for Celiac Disease is just as informative, because gluten intolerance rarely occurs in the absence of specific HLA predisposing alleles. Approximately 90% of Celiac Disease patients possess DQA1*05 and DQB1*02(DQ2.5); 5-10% carry DQA1*03 and DQB1*0302 (DQ8); while about 5% of patients possess DQ2.x molecules, encoded by the DQB1*02 at-risk allele in the absence of the DQA1*05; and very rarely, Celiac Disease patients carry different DQ molecules (DQX.x).

The close association between Celiac Disease and these HLA alleles is due to the fact that these disease-associated HLA-DQ molecules expressed on antigen-presenting cells specifically bind gluten-derived peptides that are modified by the enzyme tissue transglutaminase (tTG) and present them to intestinal CD4+ T cells. The resulting T cell response leads to the production of auto-antibodies directed against tTG and to the secretion of pro-inflammatory cytokines (mainly TNF-α and IFN-γ) with consequent mucosa atrophy and clinical manifestations.

Scientific References

Megiorni F et al. HLA-DQ and risk gradient for celiac disease. Hum Imm. 2009; 70:55-59.
Megiorni F et al. HLA-DQA1 and HLA-DQB1 in celiac disease predisposition: practical implications of the HLA molecular typing. J of Biomed Sci. 2012; 19:88.
Abadie et al. Integration of genetic and immunological insights into a model of celiac disease pathogenesis. Annu. Rev. Immunol. 2011; 29:493-525.
Kagnoff MF. Celiac disease: pathogenesis of a model immunogenetic disease. J Clin Invest. 2007; 117:41-49.
Megiorni F et al. HLA-DQ and susceptibility to celiac disease: evidence for gender differences and parent-of-origin effects. Am J Gastroenterol. 2008; 103:997-1003.
Karell et al. HLA types in celiac disease patients not carrying the DQA1*05-DQB1*02(DQ2) heterodimer: results from the European genetics cluster of celiac disease. Hum Immunol. 2003; 64:469-477