Gluten-Sensitive Enteropathy, More Prevalent than You Think

 by David A. Nelsen, Jr., MD, MS

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Abstract

Celiac disease, also known as Gluten Sensitive Enteropathy (GSE), is an autoimmune inflammatory disease of the small intestine that is precipitated by ingestion of gluten, a component of wheat protein, in genetically susceptible individuals.  The pursuant nutrient malabsorption produces a variety of symptoms in afflicted individuals.  Celiac disease has protean manifestations; iron deficiency and osteoporosis are common.  Exclusion of dietary gluten results in mucosal healing, resolution of the malabsorptive state, and reversal of most if not all of the effects that are associated with celiac disease.  GSE is one of the most common malabsorptive disorders. 

 

Recent studies suggest that GSE is more common than was previously recognized.  Seroprevalence studies in many European countries have shown the general incidence of GSE to be around 1 in 130-300.[1]  The disorder has been described in all races.  GSE is associated with a variety of other autoimmune illnesses such as type I diabetes and lupus erythematosus. 

 

GSE commonly manifests as "Silent Celiac Disease"; symptoms may be minimal or nonexistent.  Primary care physicians should consider the following patient groups for testing:  those at increased genetic risk such as family history of celiac disease or type I diabetes, those with chronic GI symptoms, unexplained anemia, chronic fatigue, and unexplained weight loss.   Serological tests for antibodies against endomysium, transglutaminase and gliadin will identify most cases of GSE.  Early diagnosis and management are vitally important to forestall serious consequences of malabsorption such as osteoporosis and anemia.  Similarly, patients with unrecognized or poorly managed GSE are at increased risk for certain cancers.  This risk is reduced or eliminated by lifelong adherence to a gluten-free diet. 


History of GSE

 

Although celiac disease was described late in the 19th century, treatment remained empiric until the mid 20th century when a Dutch pediatrician, Willem Dicke, noted that individuals with celiac disease improved dramatically after removal of dietary wheat.  (This Link will take you to translation of Dr Dicke's original thesis on the subject--very interesting for the history of medicine buffs.)  The advent of small bowel inspection & biopsy established the small intestine as the target organ.  The characteristic features of villous flattening, crypt hyperplasia, and increased intraepithelial lymphocytes (see Figure 1) were shown to normalize following institution of a gluten-free diet, fulfilling Koch's postulates for disease causality.  In 1966, Dr. Marks demonstrated an enteropathy that was strikingly similar to celiac disease in patients with dermatitis herpetiformis.  It was subsequently shown that dermatitis herpetiformis is just another manifestation of GSE, "celiac disease of the skin".  At about the same time, other observers noted that numerous neurological disorders including epilepsy, cerebral calcifications, peripheral neuropathy, etc. were associated with adult celiac disease. More recently, very subtle manifestations of GSE have been identified as "silent celiac disease."  Patients with this disorder often report vague, protean manifestations such as malaise, fatigue, weakness, and arthralgias.  Such patients are often misclassified as having more common illnesses such as chronic fatigue syndrome, fibromyalgia, or irritable bowel disorder. 

 

GSE Pathophysiology

 

Ingested protein does not normally provoke an immune response.  This phenomenon is known as oral tolerance.  Patients who exhibit true allergy to certain ingested proteins, for example milk or soy protein allergy, will have a typical type 1 IgE mediated response with urticaria, angioedema and bronchoreactivity.  GSE, rather manifests as an environmentally-induced autoimmune syndrome.  A gluten (& related protein) fragment serves to stimulate the immune system to trigger the autoimmune response.   

 

The autoimmunity of GSE involves IgA and IgG producing plasma cells; there is little or no IgE involvement.  Current theories hold that ingested 11-15 peptide long fragments of alpha-gliadin (and related) peptides bind with tissue transglutaminase (a ubiquitous intracellular enzyme) in the enterocyte.  Alpha-gliadin is rich in glutamine.  Transglutaminase deamidates the glutamine residues forming glutamic acid.  Deamidation dramatically enhances the immunogenicity of the peptide creating epitopes that are recognized as foreign by host cell-mediated immunity.[2]  Plasma cells produce IgA and IgG that are directed against a variety of antigens including tissue transglutaminase, endomysium, gliadin, and reticulin.  Locally elaborated lymphokines attract inflammatory cells[3].  This intense local inflammatory reaction produces the villous flattening characteristic of GSE.  Malabsorption of micronutrients (e.g. vitamins & minerals) and macronutrients (e.g., fat, carbohydrate, protein) follows.  Small bowel involvement is most prominent proximally.  "Patchy involvement" may be present, especially in patients with "silent" celiac disease and in those with dermatitis herpetiformis.  The intact gut provides a very effective barrier against the penetration of macromolecules.  A damaged gut, however, becomes "leaky" and allows the passage of larger molecules. As gluten ingestion continues the autoimmune reaction is perpetuated, further exacerbated.  This creates a self perpetuated state of bowel inflammation that can only be broken by removing the offending peptide.  

 

Ninety-five percent or more of patients with GSE exhibit specific HLA (Human Leukocyte Antigen) class II alleles DQA1*0501 and DQB1*0201.  Patients with type I diabetes, autoimmune thyroid disease,[4] Sjogren's syndrome, primary biliary cirrhosis, Addison disease, systemic lupus, selective IgA deficiency, and alopecia areata may also exhibit similar genotypes and are at risk for GSE  (see table 1--prev GSE w assoc cond).  Since many individuals have this genotype and only a few develop GSE, researchers have hypothesized that other cofactors, perhaps activators, may be involved.  Similarly, the concordance rate in identical twins, though high, is not 100%.  Small studies of identical twins show about an 80% concordance rate.  Thus it has been hypothesized  that environmental triggers, such as a virus, might serve to initiate the sensitivity.  One strain of adenovirus has been identified that has a very high genetic concordance with one of the purported segments of immunoreactive peptide in a-gliadin.  It has been suggested than an anomalous reaction to  a virus could serve to trigger the onset of GSE. 

 

Epidemiology 

 

Celiac disease has previously been considered a relatively uncommon disorder.  The resource document produced by the National Institute of Diabetes & Digestive & Kidney Diseases states that the general prevalence of Celiac Disease in the US is 1 in 4700.[5]  Recent population studies, however, suggest a higher prevalence, particularly in those of European ancestry.[6]  Studies have estimated (European) general seroprevalence at 1:130-300.1,[7],[8]  Not, et al, screened sera from 2000 healthy Red Cross blood donors in the US.  Eight samples tested positive for antibodies associated with GSE (7 Caucasian and 1 African American).[9]  This rate, 1:150, is consistent with rates obtained in the European seroprevalence studies. 

 

The odds of GSE increases dramatically to approximately 1:10 if a first-degree relative has GSE.  Certain other autoimmune syndromes are associated with GSE.  The high prevalence of GSE in type I juvenile onset diabetes patients (as high as 7% in some studies) warrants routine screening of this group[10]  (see table 1--prev GSE w assoc cond). 

 

Clinical Presentation and Case-Finding

 

A range of symptoms and signs are associated with untreated GSE.  The “classical” form of GSE typically presents in infancy.  It manifests as failure to thrive, diarrhea, abdominal distention, developmental delay, and, occasionally, severe malnutrition.  Failure to diagnose GSE may lead to a true medical emergency.  Beyond infancy the symptoms tend to be less dramatic.  Older children may present with constitutional short stature or dental enamel defects.  Approximately 3/4 of newly diagnosed adult patients are female.  Similarly, females tend to have more clinically conspicuous cases.[11]  Gut involvement may manifest as diarrhea, constipation, or other symptoms of malabsorption such as bloating, flatus, or belching.  Fatigue, depression, fibromyalgia-like symptoms, aphthous stomatitis, bone pain, dyspepsia, gastroesophageal reflux[12], and other nonspecific symptoms make the diagnosis challenging.[13]    (See table 2--symptoms, table 3--lab abn, table 4--serodiagnosis). 

 

Many believe that clinically apparent GSE represents the "tip of the iceberg."   Patients uncovered in seroprevalence studies are generally asymptomatic, thus the designation "silent celiac disease."  Primary care physicians should consider the following situations for possible testing:  family history of celiac disease (especially first degree relatives), personal history of (autoimmune) thyroid disease or type I diabetes, irritable bowel syndrome, anemia (especially Fe deficiency), chronic diarrhea, chronic fatigue, unexplained weight loss, short stature, epilepsy, infertility,[14] or unexplained elevation of transaminases.  Patients with related autoimmune syndromes should also be considered for testing (see table 1--prev GSE w assoc cond). 

 

Dermatitis Herpetiformis

Approximately 10-30% of adult-onset GSE patients present with dermatitis herpetiformis (DH).  The rash may wax and wane over a period of years.  It may be misdiagnosed as atypical psoriasis or non-specific dermatitis.  It may be temporarily responsive to topical or oral steroids but it invariably returns.  NSAIDs may cause a dramatic increase in the rash and this can be a key to diagnosis.[15]  The rash is intensely pruritic and most often occurs on the elbows, buttocks, knees, and back,  The rash may be vesicular or urticarial in appearance.  The appearance of the rash is likewise variable depending on the stage of the lesion.  Fresh lesions may be vesicular and remarkably similar to the rash of herpes simplex, i.e., "herpetiform" (see figure 3).   Topical iodine can induce the rash.  Older dermatology texts describe a procedure where topical iodine is used to induce a lesion for biopsy.  Biopsy of the uninvolved skin demonstrates features characteristic of dermatitis herpetiformis (see figure 4).  Immunofluorescence (of the skin biopsy specimen) demonstrating granular IgA deposition is 100% specific for DH.  Serologic testing and or distal duodenal biopsy may be used to confirm the diagnosis. 

 

Anemia

Anemia is the most common laboratory manifestation of GSE.  One-half of newly diagnosed patients are anemic.  Iron is absorbed in the proximal small intestine where GSE is most prominent; thus, iron malabsorption is common.  Secondly, occult blood loss related to the intense small bowel inflammation occurs in 50 % of patients with GSE.[16]  Folate and B12 deficiency may be present but are less common ( table 3--lab abn).  The Fe malabsorption will continue until the offending protein is removed from the diet.  Every patient with iron deficiency that is refractory to oral replacement should be evaluated for GSE.  

 

Diagnosis

Using serologic testing, many patients with GSE can be identified quickly once the diagnosis is suspected.[17]  The IgA endomysial antibody (EMA) has been demonstrated to be 85-100 percent sensitive and is generally considered to be 100 percent specific.  Anti-EMA is measured using direct immunoflourescence of monkey esophagus or umbilical cord tissue processed with suspect serum.  IgG and IgA to gliadin (AGA) are also useful in diagnosis.  IgA anti-tissue-transglutaminase (tTG) can be measured simply with an ELISA test.[18],[19]  Tissue-transglutaminase has similar sensitivity and specificity to EMA.  Antibodies against reticulin have been used in the past to establish the diagnosis of GSE but are considered to be insufficiently sensitive or specific.  Patients with GSE may also have false positive tests for syphilis (VDRL) or HIV (personal observation).  

 

Levels of antibody against EMA and tTG correlate best with gut damage.  In patients with total and subtotal villous atrophy, both tests are very sensitive.  EMA has been reported to be 100% sensitive in patients with total villous atrophy.  The combination of EMA with AGA IgG and IgA will detect 76% of patients with all degrees of mucosal damage.19,[20],[21],[22]  (see table 4--serodiagnosis).  It is important to note that 2-3 % of patients with GSE will have selective IgA deficiency.  These patients may not produce the diagnostic IgA antibodies; a positive IgG anti-gliadin may be the only serologic evidence of GSE.  If the clinical suspicion is high, these patients should have a quantitative IgA measurement.[23]  Patients with selective IgA deficiency should be strongly considered for endoscopy and biopsy regardless of their serological results.  

 

Several new tests are under development.  The IgG anti-tissue-transglutaminase (ELISA) and the RIA anti-tissue-transglutaminase tests (see journal club citations) both show promise as being more sensitive and specific.  Dr Kenneth Fine operates a commercial laboratory (Enterolab) that tests for the presence of IgA anti-gliadin and IgA anti-tissue-transglutaminase in the suspect patient stool (among other things).  Although there is not general support for this concept among celiac "experts" (Dr Fine is both a published celiac expert and a gluten sensitive individual) the idea is both intriguing and logical.  Dr Fine reports that as many as 1/3 of the US population will show stool antibodies against gliadin.  His reports have yet to be confirmed by other researchers.  

 

Genetic testing will identify individuals who have GSE but will also identify those who are at risk but do not have gluten induced autoimmunity.  For example, a first degree relative will have a 50/50 chance of sharing any particular gene with an affected person. Current theory suggests that every one with the "celiac gene" will not develop GSE, however, if you don't have the "celiac gene" then you are very unlikely to develop GSE.  Many reference labs will perform an HLA-DR and DQ genotype that can help delineate risk or rule out GSE but this can not be used alone to make the diagnosis of GSE.  

 

Distal duodenal biopsy

Distal duodenal biopsy is the "gold standard" for the diagnosis of GSE.  Most patients with suspected GSE should undergo biopsy.  Declining autoantibody titers are correlated with resolution of the gut lesion and may be used to document clinical improvement.  In equivocal cases or in cases where the patient has volitionally established a gluten free diet, a "gluten challenge" may be used to provoke the GI lesion and serologic response.  It is important to understand that GSE produces a wide range of (pathologic) gut manifestations.  The mildest manifestation of GSE is minimally increased intraepithelial lymphocytes with normal villous structures.  These patients will often have negative serologic studies.  Wahab  et al demonstrated that patients with borderline tests could be identified after an 8 week gluten challenge using 30 grams per day of gluten (see journal club citations).    

 

Disease Complications

 

Osteoporosis

Calcium and vitamin D malabsorption dramatically increase the risk of osteoporosis and osteomalacia in GSE patients.  The underlying mechanism for this is thought to be secondary hyperparathyroidism.  Most patients with GSE have some degree of osteopenia or osteoporosis as well as elevated iPTH levels.  Fortunately, calcium and vitamin D replacement coupled with a strict gluten-free diet usually result in re-mineralization of the skeleton.[24],[25]  All patients with newly diagnosed GSE should have a bone density assessment.  Postmenopausal women should be advised of the benefit of routine postmenopausal estrogen replacement.  The use of anti-resorptive agents such as alendronate has not been extensively studied but may be of benefit, particularly for patients with multiple risk factors for osteoporosis.  Aggressive Calcium (1500mg/day) and Vitamin D (800IU cholecalciferol) replacement should be advised. 

 

Neurological Manifestations

Cerebral calcifications and epilepsy have been associated with typical findings of GSE.[26],[27]  These do not always resolve after institution of gluten-free diet.  "Gluten ataxia" is a well-described entity.  Peripheral neuropathy, postural instability, and other vague neurological complaints may be the sole manifestation of GSE.[28]  GSE associated autoantibodies have demonstrated a high affinity for brain vasculature.[29]  Some authors have suggested that patients with new-onset of seizure disorders should be routinely screened for GSE. 

 

GI Complications

Refractory sprue is a state where the GI inflammation continues even though the patient has maintained a gluten-free diet.  Dietary non-compliance is the most common reason for persistent GI inflammation.  Dietary compliance  may be very difficult to ascertain.  Other conditions such as hyperthyroidism or collagenous colitis should be considered when GI symptoms are persistent.  True cases of refractory sprue are characterized pathophysiologically by T cell clones that have become deregulated and autonomous.  These clones no longer respond to the presence of gliadin but replicate independently.  Corticosteroids and immune suppressants have been used to treat refractory sprue but the data on these are sparse.  Patients who are truly diet refractory may also have cryptic lymphoma of (bowel) intraepithelial lymphocytes.  All diet refractory patients should be thoroughly evaluated by a gastroenterologist who is experienced in the diagnosis and management of refractory sprue.  Several clinical centers, eg, Mayo Clinic Rochester and Univ of Nebraska have high-level expertise in these areas. 

 

Patients with GSE that have been untreated over a long time period or those with refractory sprue may develop intestinal strictures and bowel obstruction due to extensive local inflammation. 

 

Lymphoma

Enteropathy-associated T cell lymphoma (EATL) has been associated with untreated GSE and refractory sprue.[30]  It is postulated that plasma cells that have been chronically stimulated may undergo malignant transformation.  Lymphoma is seen in patients with celiac disease as well as dermatitis herpetiformis.  Studies have demonstrated that maintenance of a long-term gluten-free state reduces this risk of lymphoma to that of the general population.[31],[32]  For this reason it is imperative that afflicted individuals maintain a gluten-free diet for the duration of their life.  Bowel adenocarcinoma in all sites is another risk, especially in patients with a long period of disease preceding diagnosis.  Since many GSE patients also have chronic gastroesophageal reflux, Barrett's esophagus is relatively common.  

 

Hepatitis C

Dr Fine et al recently reported that a group of hepatitis C patients had a 1.4% prevalence of GSE.  Another group of patients with autoimmune liver disease had a 3.4% rate of GSE. These patient groups should be considered for testing. 

 

Management of GSE

 

Once the diagnosis of GSE is made, the patient should be evaluated for known manifestations and complications of GSE (see table 5--lab eval new patients).  Iron deficiency should be treated with supplemental iron.  Osteoporosis should be treated with calcium & vitamin D.  Patients with GSE should be supported with multivitamins, iron, calcium, magnesium, zinc, selenium, vitamin D, and other nutrients based on their individual clinical situation. 

 

Complete exclusion of dietary gluten generally results in rapid healing of the gut lesion.  The advice of a Registered Dietitian is essential to help outline an appropriate diet.  The primary treatment for GSE is removal of gliadin and related proteins, from the diet.  Gliadin is a sub-component of gluten.  Gluten is a prolamine, the primary source of protein in wheat.  Barley, rye, spelt, & teff have similar proteins and must also be avoided.  Oats are the subject of controversy.[33],[34]  While oats themselves have not demonstrated toxic effects, commercial oat products are measurably contaminated with wheat.  Rice, corn, maize, flax, quinoa, tapioca, potato, amaranth and other unrelated substances such as nuts and beans are generally considered to be safe.  There are many commercial gluten-free products including breads, cookies, chips, and cereals that can be used to fashion a rich and interesting diet.  Meats, vegetables, fruit, and most dairy products are gluten-free as long as they have not been contaminated during production.  Many food manufacturers maintain lists of "gluten-free products" that can be obtained with a phone call or from their web site.  A local or national support group such as the Celiac Sprue Association can likewise be helpful.  The Internet is rich with resources (see links below).  

 

Patients with GSE must be encouraged to pursue a variety of resources in the maintenance of their diets.   It is very unlikely that the physician will have the time or resources to become an expert in the details of a gluten free diet.  The American Dietetics Association has extensive resource documents for patients.  They also have detailed pathways to assist the registered dietician in the management of the gluten intolerant patient.  There is a great challenge to the long term maintenance of a gluten free diet.  The modern day diet relies heavily on wheat based foods for protein and fiber.  The GSE patient must choose foods with sufficient variety & nutritional value that other nutritional issues are not created when the gluten free diet is instituted.  Here lies the greatest advantage in the help that a registered dietician will provide.  

 

The physician must also be aware that certain medications may be problematic for patients with GSE. Medications that contain wheat-based excipients are problematic for patients with GSE.  The clinical pharmacist can be of great help here.  

 

The physician should also be aware of the GSE patient's other needs.  Many GSE patients feel that they have been misdiagnosed  for years prior to their "official" diagnosis.  They may not fully trust the physician to treat this "exceedingly rare" condition.  The physician must form a partnership with the patient as in other conditions.  GSE patients often feel alienated and socially debilitated.  Food  and the sharing of meals have very important sociological connotations in our modern society.  GSE patients are often frightened to put any food in their mouth that they have not personally prepared.  Eating out presents a tremendous challenge to the GSE patient.  Catered and banquet foods should be highly suspect for contamination.  Many GSE patients will refuse to eat in a restaurant where they cannot personally consult the food preparer/chef or in environments where contamination is a virtual certainty (eg, bakery).  Many European  countries have an increased awareness of GSE.  Similarly, many local support groups in the US have assisted local restaurants to identify menu items with a low risk of contamination.  

 

A particular challenge to the physician is the "self-diagnosed" celiac (or gluten-sensitive) patient.  These patients, for a variety of reasons, have chosen to pursue a gluten-free diet.  If the patient has been on a gluten-free diet for even a period of months it may be difficult or impossible to "prove" that GSE exists.  Some patients may agree to a "gluten challenge."  However, the physician must be very careful not abandon or ridicule the patient who chooses to continue with the diet.  Genetic testing can be used to place patients into probability groups with respect to GSE but it cannot prove or disprove GSE existence with complete assurance.  Parents of children with infantile autism will often choose to place their children on gluten free diets.  These patients do not have GSE.  There have been anecdotal cases of autistic patients who have had dramatic resolution of their symptoms on gluten free diets although this is not supported by medical research.  One recent study failed to show improvement although the study involved a small group of patients followed over a relatively brief time period.  

 

Even more challenging are patients who report multiple food or environmental sensitivities.  GSE patients are more likely to report multiple food intolerances than other patients.  Similarly, they are more likely to be afflicted with other autoimmune disorders.  Depression is more common in patients with GSE.  A supportive doctor-patient relationship as well as a well-timed referral to a psychologist or psychiatrist may ameliorate the situation.   

 

Conclusion

 

Family Physicians are in a unique position to identify and manage patients with GSE.  Patients with “silent celiac disease” typically have minimal GI symptoms and are not likely to be referred to a gastroenterologist unless this disorder is considered.  Seroprevalence studies suggest that patients with minimal, vague, or constitutional symptoms may outnumber patients with clear GI symptoms.  Serologic testing for appropriate autoantibodies will identify most patients with GSE (Figure 5--Eval of suspected cases).  

 

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