​Kembara Xtra - Medicine- Celiac Disease

​Kembara Xtra - Medicine- Celiac Disease
Introduction
​A genetically predisposed person's immune system reacts to dietary gluten (present in wheat, barley, and rye), mostly damaging the small intestine. Gliadin, an ingredient in wheat, rye, and barley that is part of the gluten family, is intolerable to those who are affected.
Presentations - Common
 Gluten-free diet (GFD) cures diarrheal disease characterized by villous atrophy and signs of malabsorption (steatorrhea, weight loss, vitamin deficiencies, anemia).
Adults with gastrointestinal (GI) symptoms are 50% of the population.
- Unusual
 Minor gastrointestinal symptoms with a wide range of extraintestinal manifestations (such as anemia, LFTs, dental enamel abnormalities, neurologic problems, and infertility), etc.
- An asymptomatic (quiet) illness
 Discovered during a first-degree relative screening
 Positive genetic tests and lab results; no symptoms or indications; normal histology on biopsy
Systems impacted:
Synonym(s): gluten-sensitive enteropathy; celiac sprue

Incidence and prevalence in epidemiology 

Predominant sex: female > male (3:2); incidence: 1 to 13/100,000 worldwide; 6.5/100,000 in the United States; primarily affects people of Northern European descent.
Approximately 3 million Americans are thought to have celiac disease, with a prevalence of 0.7% in the country and a global prevalence of 1%.

Pathophysiology 

Intolerance to gluten, particularly the gliadin protein component.
GI symptoms and malabsorption follow the alteration of the gliadin protein by tissue transglutaminase (tTG), which causes immunologic cross-reactivity, inflammation, and tissue destruction (villous atrophy).


Genetic homogeneity for HLA-DQ2/DQ8 raises the risk of enteropathy-associated T-cell lymphoma and celiac disease.


First-degree relatives have a 5-20% incidence, but second-degree relatives have a higher risk.
Child Safety Considerations
Other risk factors, including as the processing of grains, genetically modified organisms, poor hygiene and childhood illnesses, breastfeeding, the introduction of solid foods at a young age, pollution, tobacco use, and medicine, do not explain why some people who are vulnerable to the disease have celiac disease while others do not.

Accompanying Conditions  
85% of people with dermatitis herpetiformis (DH) also have celiac disease. Every patient should adhere to GFD.

Osteopenia and osteoporosis, secondary lactase insufficiency, and Hashimoto thyroiditis are among the conditions.
In people with type 1 diabetes, celiac disease affects 3–10% of them.
10-15% of people with symptomatic iron insufficiency have celiac disease.

 Hyposplenism Elevated AST and ALT (without a known cause)
Apthous ulcers of the mouth
 Restless leg syndrome (RLS) Irritable bowel syndrome (IBS)
The risk of small bowel adenocarcinoma and lymphoma is raised in people with celiac disease.
– The histology of the small intestine influences the risk of lymphoproliferative cancers.
– Latent celiac disease (seropositive but normal biopsy) has little to no elevated risk.
Type 1 diabetes, autoimmune thyroiditis, primary biliary cirrhosis, autoimmune hepatitis, psoriasis, and Sjögren's syndrome are associated autoimmune illnesses. Down syndrome, IgA deficiency, Turner syndrome, and Williams syndrome are associated genetic conditions.

Considerations for Pregnancy Up to 19% of men with celiac disease have androgen resistance The prevalence of celiac disease is 2.5 to 3.5 times greater in women with unexplained infertility. With GFD, sperm quality and conception chances improve.
 Increased rates of stillbirths, intrauterine growth restriction, spontaneous abortions, low birth weight, and preterm
Child Safety Considerations
Type 1 diabetes, Down syndrome, Turner syndrome, Williams syndrome, IgA deficiency, and autoimmune thyroid disease are all more common in children with celiac disease.

Diagnosis The most typical GI symptoms are diarrhea and cramping, but other signs and symptoms might also include steatorrhea (fatty stools), abdominal pain or distension, nausea, vomiting, and flatulence, as well as weight loss, weakness, and weariness.
Delay in puberty, iron deficiency anemia, recurrent aphthous stomatitis, dental enamel hyperplasia, headaches, anorexia, and encopresis are some of the clinical symptoms.
Malabsorption in children may show up as chronic lethargy, small stature, or inability to thrive.


clinical assessment 
Physical examinations are frequently typical. 
Orthostatic hypotension and peripheral edema are some of the findings.
Skin: dermatitis herpetiformis (symmetric erythematous papules and blisters on elbows, knees, buttocks, and back), symptoms of anemia. Oropharynx: aphthous stomatitis, glossitis, cheilosis.

Differential Diagnosis for the Abdomen
Short bowel syndrome, small intestinal bacterial overgrowth, lactose intolerance, dyspepsia, gastroesophageal reflux disease (GERD), Crohn disease, Whipple disease, tropical sprue, hypogammaglobulinemia, intestinal gluten sensitivity, type II allergic reaction to gluten with anaphylaxis, non-celiac gluten sensitivity, and intestinal gluten sensitivity.

Findings from the Laboratory and Diagnostic Test 
The gold standard for diagnosis is a tissue biopsy.
Initial examinations (lab, imaging)
When diagnosing adults, do not rely entirely on serology.
While on a gluten-containing diet, patients with symptoms strongly suggestive of celiac disease or those with positive serologies should have an endoscopy for a small bowel biopsy.
During a regular upper endoscopy, a biopsy and histologic study of the duodenal bulb improve the likelihood of diagnosing celiac disease. It is advised to sample the distal duodenum and the duodenal bulb to help histologically confirm the presence of celiac disease.
The preferred serologic test for patients older than two years is IgA anti-tTG.
Total serum IgA can be used as a test for IgA deficiency.
ALERT
If on a regular (non-gluten-free) diet for at least four weeks, positive IgA tTG has a high sensitivity and specificity (sensitivity, 95-98%; specificity, 95%).
Patients with IgA deficiencies have IgA anti-tTG antibodies that are falsely negative.
IgA deficiency is 10–15 times more common in celiac disease patients.
The deamidated gliadin peptide [DGP] antibody is not favoured over the tTG antibody test.

Tests in the Future & Special Considerations
Follow up with anti-DGP IgA and IgG if the patient has an IgA deficiency or if IgA anti-tTG results are negative.
- Anti-tTG has a 94% sensitivity and a 99% specificity.
Use of HLA DQ serotyping for first diagnosis should be avoided.
Think about whether inconsistent serology-histology prevents patients from testing on Down syndrome and GFD patients.
 If osteopenia or osteoporosis is detected during the initial testing but the patient is still exhibiting symptoms or is not adhering to the recommended diet, consider bone mineral density testing at the time of diagnosis and again after a year or two.
The likelihood of achieving mucosal healing increases with younger age at diagnosis, less severe initial histologic damage, and male gender.
Family members are more at risk if there are multiple CD sufferers. Verify your family, including any second-degree relatives. 

Child Safety Considerations
Children experiencing symptoms should be tested for IgA and IgA antitTG antibodies.
IgA anti-tTG Ab monitoring can be used to measure dietary compliance on a regular basis.
Negative serology does not eliminate CD.
For high-risk kids with negative serology, take HLA into consideration.
Limit the use of IgA antiendomysial antibodies in individuals with conditions such type I diabetes or autoimmune liver disease that raise false-positive tTG Ab levels.
Other/Diagnostic Procedures
 At the time of initial evaluation, endoscopy with a minimum of four distal duodenal biopsies and two duodenal bulb biopsies accurately diagnoses 95% of children.

With a sensitivity and specificity between 80% and 95%, video capsule endoscopy is a viable option. It is especially useful if antibody screening and the clinical presentation are consistent with celiac disease despite nondiagnostic duodenal biopsies.
Interpretation of Tests
intestinal biopsy
Plasma cell infiltration, villous atrophy, hyperplasia and extension of crypts, and intraepithelial lymphocytosis in lamina propria
Villous atrophy is additionally brought on by Giardia, Crohn's illness, radiation enteritis, and other food intolerances.

Management and Therapy 
A gluten-free diet (GFD) entails avoiding rye, barley, and wheat.
- Rice, corn, and nut flour are acceptable and secure alternatives.
Uncontaminated oats, rice, corn, tapioca, quinoa, amaranth, and sorghum are among the grains.
The immunological response to gluten will return with the resumption of gluten consumption; levels of IgA antigliadin normalize with gluten abstinence.

First Line of Medicine 

In general, no drugs. Primary treatment is GFD.

Second Line In cases of refractory disease, speak with a GI to discuss the selection, administration, and duration of second-line agents:
- Steroids (budesonide or prednisone) 
- Azathioprine (use with caution; lymphoma risk with usage) Depending on the severity of the disease, individuals may experience nutritional deficiencies that call for adequate supplementation.

Factors for Referral Include Refractory Celiac Disease, Additional Nutritional Support with a Qualified Dietitian, and Children with Positive Celiac Serology.


Healthcare Alternatives 
Numerous alternative treatments are being developed.
Future therapies might involve tight junction blockage, transglutaminase 2 or HLA DQ2/DQ8 blockers, predigestion of gluten using peptidase, or immunological tolerance induction.

Patients who have celiac disease are more likely to get pneumococcal infection. Particularly for people who may not have gotten a pneumococcal vaccination between the ages of 15 and 64, pneumococcal vaccination should be taken into consideration.


Follow-up: Screen for osteoporosis and treat as necessary; consultation with licensed dietician.
If necessary, repeat biopsies should be performed after 12 months and at 3 to 6 months for serology.


patient observation

If there is no clinical response to GFD or a symptom return, repeat the EGD.

Instead of antigliadin IgA or IgG, use anti-tTG IgA or deaminated antigliadin antibodies to gauge dietary response and compliance.


Caution
Eliminate any products containing gluten, including those made from wheat, rye, barley, and processed meat, pharmaceuticals, and personal care items.
Dietary change is difficult (particularly when trying to discover sources of "hidden" gluten), thus it is best to work with a qualified registered dietitian to make it happen.
 Highlight the issues and results of not adhering to a GFD; talk about how to identify gluten in various goods. Support groups and self-education



Prognosis: If you follow the GFD, your prognosis is good.
Patients should feel better within 7 days of changing their diet.
Usually, symptoms go away in 4 to 6 weeks.
It is unknown if rigorous dietary observance lowers the risk of developing cancer.

Complications 
Malignancy: Patients who are untreated or resistant to therapy have a higher risk of developing cancer, but successful treatment lowers that risk to the population average.
Refractory illness, which affects just 1% to 2% of people,
Prednisone may be effective; whole parenteral feeding may be required.
Osteoporosis, electrolyte depletion, dehydration, and vitamin deficiency