CELIAC DISEASE – What you need to know

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Transcript CELIAC DISEASE – What you need to know

CELIAC DISEASE –
What you need to know
Dr Ofelia Marin
PEDIATRIC
GASTROENTEROLOGIST
Private practice Billings Montana
Facts about Celiac Disease
• The most under diagnosed disease in the U.S.A.
• Underdiagnosed by ~25%.
• Patients often experience symptoms for years before being
diagnosed, average time to diagnosis is 8 years.
• Undiagnosed, untreated disease predisposes patients to
osteoporosis, anemia, chronic gastrointestinal upset, developmental
and learning disabilities in children, and certain forms of aggressive
cancers especially lymphatic cancers.
• Its proper descriptive name is “gluten sensitive enteropathy” which
indicates that it occurs as a consequence of ingesting grain products
at contain gluten- such as wheat.
•
Source:www.gluten.net
YOU DO NOT OUTGROW CELIAC
DISEASE
• YOUNG CHILDREN MAY SUFFER FOR 1/3 TO
½ OF THEIR LIVES BEFORE OBTAINING A
DIAGNOSIS.
• MANY PATIENTS SEE PHYSICIANS AND
NUMEROUS SPECIALISTS FOR SYMPTOMS
AND ARE MANY TIMES MISDIAGNOSED.
• THEY DO NOT RESPOND TO
DRUGS/THERAPIES AND AT THIS POINT
THERE SHOULD BE A CONCERN FOR
UNDERLYING CAUSES.
MANY PEOPLE THINK
HAVE CELIAC DISEASE
AND MAY NOT!
THEY MAY HAVE WHEAT
INTOLERANCE AND IRRITABLE
BOWEL
Celiac disease multisystem
disorder
• Primary target of injury is the small intestine triggered by
gluten the main storage protein in certain grains.
• Gluten damages the small intestine so that it is unable to
absorb nutrients properly.
• As food malabsorption continues and the disease
progresses the manifestations become more varied and
complex.
• Once recognized as rare diarrhea disease of children
now is known predominantly as the disease of adults
and the majority of people are asymptomatic or consult
doctors for other complaints.
Pathogenesis:
1 A component of gluten,
gliaden, interacts with a specific
genetic form of HLA receptor
on an antigen presenting cell.
2. Tissue transglutaminase
converts glutamine residues to
glutamic acid residues making
an even more potent antigen.
3. T helper cells are activated
and, in turn, activate B and killer
T cells.
4. Plasma cell antibodies bind to
gliadin bound to enterocytes,
tissue transglutaminase and
reticular fibers surrounding gut
smooth muscle (endomysial
ab’s).
5. T cells release (inappropriate)
inflammatory cytokines as well
as inflict tissue damage.
Source:NEJM 346:180, 2002
Celiac disease progression
• As the disease progresses and is not diagnosed
until later in adulthood many patients develop
many other problems from years of inflammation
and malabsorption of mineral, vitamins and other
necessary nutrients.
• Bone loss result osteopenia, osteoporosis,
anemia, malignancies small intestine, peripheral
neuropathies ( tingling extremities)
• Hyposplenism ( underactive spleen)
• Liver disease
Unusual manifestation of celiac ds
• Liver disease- autoimmune hepatitis –
nonspecific hepatitis, fatty liver, primary
sclerosing cholangitis and primary biliary
cirrhosis.
• CEC- celiac disease/epilepsy/ calcification
of the cerebral cortex.
• Splenic calcification rare occur in children
without cerebral cortex calcifications.
• Biopsy of the intestine in a patient with no active disease
following challenge with gluten (~ 1 week). What is particularly
notable is the infiltration of the epithelium by lymphocytes (you
can see the increased number of nuclei but it’s hard to
determine specific cell types!) Enterocytes also show damage.
Normal
intestinal
biopsy
Small intestinal biopsy in a
patient with active celiac
disease
Arrows indicate intraepithelial lymphocytes which, in
this disease, are destructive.
Arrowheads indicate plasma cells which are secreting ab’s against
gliaden bound to enterocytes as well against reticulin and tissue
transglutaminase resulting in tissue destruction. Source:NEJM
Biopsy from which
the previous high
power micrograph
was taken.
Villous atrophy, crypt
hyperplasia (it almost
looks like the colon)
are evident.
From what region of
the small intestine
was this biopsy taken?
Duodenum, see
Brunner’s glands?
Source:NEJM
When the patient adheres to a strict gluten-free diet, the damaged intestinal
mucosa (often but not always ) completely regenerates including reformation
of normal villi. This is a normal biopsy.
series.
Source:NEJM
Sprue
Normal
As the damage recedes, the ragged, lymphocyte infiltrated-enterocytes
are replaced by normal columnar ones, thus assuring normal transport
from the lumen into the body.
Source:NEJM
This series takes you through
active disease, repair (better cell
and crypt morphology, decreased
cell infiltration) and repair
(reformation of villi and normal
crypt:villus ratio -- difficult to see)
in this micrograph.
Source: Gastrointestinal Mucosal Biopsy by Harvey Goldman; Churchill Livingston
•Study of this disease reveals
that the genes that regulate the
differentiation of the four main
cell types found in the epithelium:
1. enterocyte, 2. goblet, 3. Paneth, and
4. enteroendocrine can restore the
normal populations of these cells as
the disease recedes.
•Beyond that, the genes that regulated
villus and crypt formation
(complicated processes) during
embryonic histogenesis can be
reactivated in the adult to restore
tissue architecture.
• It’s learning how to harness these
genes to restore normal tissue
architecture that remains a major
challenge in medicine.
FLAT MUCOSA SEEN IN ORDER
CONDITIONS
• CELIAC DISEASE (OF COURSE)
• TEMPORARY FOOD SENSITIVITY- COW’S AND SOY MILK IN
BABIES (OUTGROW BY 9 MONTHS TO 1 YEAR).
• GASTROENTERITIS- VIRAL. PARASITES OR BACTERIAL
• AUTOIMMUNE ENTEROPATHY
• MALNUTRITION-PROTEIN ENERGY
• TROPICAL SPRUE- MALABSORPTION DISEASE FOUND IN
TROPICAL REGIONS- CAUSE UNKNOWN-PARASITE-VIRUSBACTERIA-FOLIC ACID DEF-RANCID FAT
• TUBERCULOSIS OF SMALL INTESTINE
• ACQUIRED HYPOGAMMAGLOBINEMIA
REINVESTIGATE IF THE DIAGNOSIS OF CELIAC DISEASE IS
MADE BEFORE 1 YEAR OF AGE AND THE SEROLOGY IS
NEGATIVE.
The Course of Celiac
Disease
The role of the physician is that of
diagnosis.
Treatment is almost entirely
dependent on the patient.
Cure is almost entirely dependent on the
innate ability of the body to restore normal
cell populations and tissue architecture
(recapitulating, to a great degree, embryonic
histogenesis.)
CELIAC DISEASE IN VARIOUS
COUNTRIES
• CELIAC DISEASE IS HIGHEST IN THE
IRISH POPULATION
• CELIAC DISEASE IS MORE COMMON IN
MONOZYGOTIC TWINS (SHARE THE
SAME PLACENTA) 86%.
GLOBALIZATION OF CELIAC
DISEASE
• UNTIL RECENTLY GEOGRAPHIC
DISTRIBUTION WAS RESTRICTED
• Mostly developed countries USA-CANADAAUSTRALIA.
• It is also common in the Asian continent due to
urbanization and increased wheat consumption
(not just rice)
• It is more common in Northern India due to
higher wheat consumption compared to
Southern India.
FACTS AND STATISTICS:
• 1 out of every 133 Americans (about 3 million people) has CD. ( 1% OF
POPULATION OF THE US)
• 97% of Americans estimated to have CD are not diagnosed.
• CD has over 300 known symptoms although some people experience none.
• Age of diagnosis is key: If you are diagnosed between age 2-4, your chance
of getting an additional autoimmune disorder is 10.5%. Over the age of 20,
that rockets up to 34%.
• 30% of the US population is estimated to have the genes necessary for CD.
• 2.5 babies are born every minute in the USA with the genetic makeup to
have CD.
• There are 15 states in the US with populations less than the total number of
Celiacs in the US.
• CD affects more people in the US than Crohn’s Disease, Cystic Fibrosis,
Multiple Sclerosis and Parkinson’s disease combined.
• People with CD dine out 80% less than they used to before diagnosis and
believe less than 10% of eating establishments have a ‘very good’ or ‘good’
understanding of GF diets.
• It takes an average of 11 years for patients to be properly diagnosed with CD
even though a simple blood test exists.
• The US Department of Agriculture projects that
the GF industries revenues will reach $1.7 Billion
by 2010.
• GF foods are, on average, 242% more
expensive then their non-GF counterparts.
• The Food Allergen Labeling & Consumer
Protection Act became law in 2006 allowing for
easier reading of food labels for those with CD.
What took so long?
• 12% of people in the US who have Down
Syndrome also have CD.
• 6% of people in the US who have Type 1
Diabetes also have CD.
• Among people who have a first-degree relative
diagnosed with Celiac, as many as 1 in 22
people may have the disease.
• There are currently 0 drugs available to treat
CD.
CLINICAL EXPRESSION VARIES
• OCCASIONAL PATIENTS DEVELOP CELIAC
DISEASE LATER IN TIME DESPITE A
PREVIOULY NORMAL SMALL INTESTINAL
BIOPSY.
• CLINICAL EXPRESSION VARIES IN
DIFFERENT AGES OF LIFE- MOST SEVERE
BEING IN CHILDHOOD 1-5 YEARS OF AGELESS SEVERE IN ADOLESCENTS AND MORE
SEVERE AGAIN IN ADULT LIFE
PRESENT VARIOUS WAYS
• CLASSICAL PRESENTATION IN INFANCY- 9
TO 18 MONTHS ABDOMINAL DISTENTION –
FTT- FREQUENT STOOLS – IRRITABLE
• LESS THAN 9 MONTHS OF AGE- SEVERE
DIARRHEA ( NO INFECTION)-ABDOMINAL
DISTENTION NOT USUALLY NOTED
• OLDER KIDS –SHORT- ANEMIA DON’T
RESOLVE ON IRON TX-RICKETSOSTEOPOROSIS-PERSONALITY ISSURESDELAYED PUBERTY
• ADULTS- INFERTILITY ( SHOULD BE PART OF
THE WORKUP)
Nerological problems associated
with celiac disease
• Unexplained neurological problems
• Screen for celiac disease
• Ataxia,dementia, seizures and
neuropathies.
Autoimmune disease and celiac
• autoimmune disease affects 3 % of celiac
• Celiac disease patients have autoimmune
disease 30% of the time
• Thyroid, sjogren, Addison, autoimmune liver
disease, biliary cirrhosis, cardiac ds, alopecia
2%, Rheumatoid arthritis 1 %
• Thyroid disease- hypo/hyper-Grave’s/Hashimoto
• Dental enamel problems- mouth ulcers
• Raynaud’s cold hands/feet constricted blood
vessels.
Overweight patients misdiagnosed
• Few celiac patients are underweight at diagnosis
and a large minority is overweight; these are
less likely to present with classical features of
diarrhea and reduced hemoglobin. Failed or
delayed diagnosis of celiac disease may reflect
lack of awareness of this large subgroup. The
increase in weight of already overweight patients
after dietary gluten exclusion is a potential cause
of morbidity, and the gluten-free diet as
conventionally prescribed needs to be modified
accordingly.
Overweight diagnosis challenge
• University of Tampere, and the Department of
Gastroenterology and Alimentary Tract Surgery at
Tampere University Hospital, both in Tampere, Finland.
• To assess weight and disease-related issues, the
researchers looked at 698 newly detected adults who
were diagnosed with celiac disease by classical or extraintestinal symptoms or by screening.
• The researchers measured BMI upon celiac diagnosis
and after one year on a gluten-free diet. They then
compared the results against data for the general
population.
• Study data showed that 4% of patients were underweight
at celiac diagnosis, 57% were normal weight, 28% were
overweight and 11% were obese.
Gluten-free diet can pile on pounds
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One of the most asked questions when it comes to Celiac Disease is, can gluten
intolerance cause weight gain? The truth is, yes. Many people believe that because
you are not eating foods such as bread, pasta and full fat milk that your weight will
drop dramatically, but for some this is not the case. Many time being gluten intolerant
does not mean instant weight loss.
Extra sugar is often added to increase the tasteL.
People gain weight on gluten-free diet everyone's body is different, its impossible for
me to give you a proper diagnosis for your possible weight gain. One of the mains
reasons however, is the deficiency of minerals and vitamins which you used to eat in
foods that contained gluten. This problem is easily rectified, with eating extra foods
which contain these vital nutrients your body needs to work.
Vitamin and mineral supplements are also another way of getting these into your
body. . You must first check with your local doctor before starting any course of
supplements.
Nutrient loss is usually the main cause of weight gain among Gluten Intolerance
sufferers, but also other reasons such as diet . fat.
Now that you know a couple of reasons for possible weight gain, you can now start to
look at which foods you are eating may be making you pile on the pounds. . You
probably bought these without looking at their fat content values, and this is
understandable. I know full well how not being able to eat certain foods can become
difficult.
MODE OF PRESENTATION
VARIABLE
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MOST COMMON PRESENTATION IS DIARRHEA-FEW HAVE CONSTIPATION
ABDOMINAL PAIN-MISDIAGNOSED AS IRRITABLE BOWEL
FTT-WEIGHT LOSS-VOMITING-PROTUBERANT ABDOMEN –MUSCLE WASTINGWEAK MUSCLES-fibromyalgia-chronic fatigue.
- SKIN PROBLEMS-(eczema, contact dermatitis.
ANOREXIA OR INCREASED APPETITE.
EDEMA FROM PROTEIN MALABSORPTION-DECREASED PROTEIN ( IMPROVED
ON GLUTEN-FREE DIET.
EMOTIONAL PROBLEMS-WITHDRAWN-IRRITABLE-CLINGY-DEPRESSEDANXIOUS-FORGETFULL ( FROM DEFICIENCY OF FOLIC ACID)
LIVER PROBLEMS-CHRONIC LIVER DISEASE
SPLEEN PROBLEMS-HYPOSPLEENISM
PULMONARY PROBLEMS-FREQUENT PULMONARY INFECTION-(THOUGHT TO
BE CYSTIC FIBROSIS AT TIMES).
ABNORMAL PROTHROMBIN TIME ( DUE TO MALABSORPTION OF VITAMIN k)
OSTEOPOROSIS – OSTEOPENIA
AUTOIMMUNE DISORDERS-THYROID ( HYPO/HYPER)-DIABETES-Sjogren’s
syndrome.
Sjogren’s syndrome
• Sjpgren’s syndrome is an autoimmune disorder
associated with dryness (sicca syndrome)
immune system attacks the exocrine glands and
destroys them.
• 4 million people in the US have it and 9 out of 10
are women-women mostly get after menopause.
(but can occur at any age)
• Causes arthritis. dryness of mouth, skin, nose
and vagina
• Also affects pancreas, kidneys, lungs, liver,
nervous system and brain.
DERMATITIS HERPETIFORMIS
Characteristic rash
•
Dermatitis herpetiformis is characterized by papulovesicular
eruptions, usually distributed symmetrically on extensor surfaces
(buttocks, back of neck, scalp, elbows, knees, back, hairline, groin,
or face). The blisters vary in size from very small up to 1 cm across.
•
The condition is extremely itchy, and the desire to scratch can be
overwhelming. This sometimes causes the sufferer to scratch the blisters off
before they are examined by a physician.8 Intense itching or burning
sensations are sometimes felt before the blisters appear in a particular area.
•
Untreated, the severity of DH can vary significantly over time, in response to
the amount of gluten ingested.
•
Dermatitis herpetiformis symptoms typically first appear in the early years of
adulthood between 20 and 30 years of age.
•
The rash rarely occurs on other mucous membranes, excepting the mouth or
lips. The symptoms range in severity from mild to serious, but they are likely to
disappear if gluten ingestion is avoided and appropriate treatment is
administered.
•
Dermatitis herpetiformis symptoms are chronic, and they tend to come and go,
mostly in short periods of time. Sometimes, these symptoms may be
accompanied by symptoms of celiac disease, commonly including abdominal
pain, bloating or loose stool, and fatigue.
•
TREATED BY DERMATOLOGIST WITH MEDICATION DAPSONE TILL GLUTEN
FREE DIET USED.
DERMATITIS HERPETIFORMIS
• 10 % OF THE PEOPLE WITH CELIAC DISEASE HAVE
DH.
• Male to female ratio 2:1
• 20% of the people with DH have normal intestinal
biopsies.
• 30 % of the people with DH don’t have anti tissue
transglutaminase and endomyseal antibody.
• Gluten in the skin produces IgA AB which bind to the
skin.
• It takes 2 years on gluten free diet to get rid of the IgA
skin deposits.
Dermatitis herpetiformis
• DH IS CELIAC DISEASE SMALL BOWEL
BIOSPY MAY NOT BE NEEDED.
• DAPSONE- blocks the inflammatory in the
skin and suppresses the itching
• ( also used to treat leprosy)
Other findings in celiac disease
BRUISING
• Malabsorption of vit K- bleed/bruise
• ITP- idiopathic thrombocytopenic purpura
due to autoimmune reaction to platelets
• Scurvy- decreased Vit C- fragille
capillaries bruising.
CANCER IN CELIAC DISEASE
• 33X GREATER RISK OF INTESTINAL
ADENOCARCINOMA
• 12 X GREATER CHANCE OF
ESOPHAGEAL CANCER
• 9X GREATER FOR NON-HODKIN’S
LYMPHOMA
• 5X GREATER FOR MELANOMA
• 23X GREATER FOR PAPILLARY
THYROID CANCER
CELIAC DISEASE TREATMENT
• THE ONLY TREATMENT IS GLUTEN
FREE DIET AT THIS TIME:
• Celiac disease patients vary in their
tolerance– some patients a small amount
without developing symptoms while others
experience diarrhea with only minute
amounts of gluten.
Treatment
• There is only one treatment, strict adherence to
a gluten-free diet.
• Gluten-free foods are limited, and frequently
unavailable.
• Gluten-free foods cost 2-3X that of normal foods.
• Unfortunately, purchase of gluten-free products
is rarely covered by health insurance.
• The good news is that strict adherence to a
gluten-free diet can have an extraordinary
outcome as seen on the next slide.
•
Source:www.glutin.net
TREATMENT MAY TAKE TIME
• IT MAY TAKE 2 TO 6 MONTHS BEFORE
CLINICAL RESPONSE IS SEEN
• CATCH UP GROWTH OCCURS 2ND YEAR OF
TREATMENT
• MANY HAVE DISACHARIDASE (SUGAR)
DEFICIENCIES AT THE TIME OF DIAGNOSIS
ESPECIALLY LACTOSE AND COW’S MILK
ALSO BECAUSE OF THE PROTEIN TO COW’S
MILK –MANY TIMES TEMPORARY
• GLUTEN IS LIFE LONG RESTRICTION
GLUTEN FREE-DIET INCLUDES
• Avoid all foods made from wheat, barley and
rye
• Including breads, cereal, pasta, crackers,
cakes, pies and gravies.
• Avoid oat unless states in pack as gluten freeuse the same processing and can be
contaminated.
PROCESSED FOODS MAY
CONTAIN GLUTEN:
• CANNED SOUPS ( PROGRESSO HAS
GLUTEN FREE SOUPS)
• SALAD DRESSINGS
• ICE CREAM
• CANDY BARS ( RICE BARS USUALLY OK)
• INSTANT COFFEE
• LUNCH MEAT-MUSTARD-KETCHUP
• YOGURT ( YOPLAIT GREEK OK)
OTHER GLUTEN PRODUCTS:
• TABLETS, CAPSULES VITAMINS- WHEAT
STARCH IS A COMMON BINDER.
• AVOID BEER EXCEPT –REDBRIDGEBRUNEHAUT HAUT AMBREE-NEW PLANET
TREAD LIGHTLY AND OTHERS GLUTENFREE
• AVOID COW’S MILK OTHER DAIRY CONTAIN
LACTOSE- UNTREATED CELIACS OFTEN
LACTOSE INTOLERANTS- INTRODUCE
LATER IF NO SIGNS OF LACTOSE
INTOLERANCE
OTHER CONCERNS:
• Utensil contaminated-kitchen area- need new toaster
• READ FOOD LABELS THEY CAN CHANGE.
• CELIACS CAN HAVE MALABSORPTION AND
DEVELOP VITAMIN AND MINERAL DEFICIENCIESCAN TAKE MULTVIT DAILY WITH MINERAL- MANY
VITAMINS DO NO HAVE MINERALS.
• OSTEOPOROSIS LOW CALCIUM TREAT WITH
CALCIUM- VIT D AND OTHER TREATMENTS
AVAILABLE SUCH AS AVISTA
• EXERCISE CAN HELP PREVENT OSTEOPOROSIS.
RESEARCH UNDER WAY
POSSIBLE TREATMENT
BLOCKING AN INFLAMMATORY PROTEIN
CALLED INTERLEUKIN-15 ( IL-15) MAY HELP
THE SYMPTOMS OF CELIAC DISEASE AND
PREVENT THE DEVELOPMENT OF CELIAC
DISEASE IN CERTAIN AT-RISK PEOPLE.
RESEARCHERS BLOCKED IL-15 IN MICE
GENETICALLY ALTERED TO HAVE CELIAC
DISEASE AND FOUND THAT THE DISEASE
SYMPTOMS WERE REVERSED, AND THE
MICE WERE AGAIN ABLE TO EAT GLUTEN.
IL-15 RESEARCH
• MEDICATIONS THAT BLOCK IL-15 ARE BEING
DEVELOPED FOR OTHER INFLAMMATORY
DISEASES INCLUDING RA.
• Dr. BANA JABRI co-director of DIGESTIVE ds
RESEARCH CORE CENTER UNIV OF
CHICAGO- STATED IL-15 MAY BE CRITICAL
ELEMENT THAT DRIVES THE TOLERANCE
TO GLUTEN AND THAT PATHWAYS CAN BE
BLOCKED TO POTENTIALLY DEVELOP
THERAPIES FOR CELIAC DISEASE.
IL-15 is cytokine in the intestines
• CYTOKINES ARE PROTEIN
MESSANGERS IN THE BODY
• They are the “bouncers”- help the body
respond to stress, infections, noxious
agents
• inflammation= villous atrophy
REASONS TO PURSUE TESTING
FOR CELIAC DISEASE
• You may have one (or more) different reasons to pursue testing for
celiac disease. Perhaps you suffer from celiac disease symptoms,
which can range from diarrhea and weight loss to neurological
problems and weight gain.
• You may have a close family member who was diagnosed with
celiac disease, and have learned that guidelines recommend celiac
disease testing for relatives, since the condition is genetic in nature.
• Or, you may suffer from one or more related autoimmune conditions,
such as Sjögren's syndrome or psoriasis. Studies have shown that
celiac disease is more common in people with these conditions.
• Regardless of your reasons for wanting to pursue a celiac disease
diagnosis, testing for celiac disease is a fairly lengthy process
involving blood tests and, ultimately, a procedure known as an
endoscopy, used to look directly at your small intestine. In the bestcase scenario, you'll have your answer within a few days or a week,
but the diagnostic process can take much longer in some areas,
especially where gastroenterologists (specialists in the digestive
system) are in short supply.
• Celiac Disease Tests
TESTING WHILE ON GLUTENFREE DIET
• Celiac disease is diagnosed through blood test,
... If you are following a gluten free diet before
testing, it may alter your test results and make
them inaccurate.
• The only test that are accurate are genetic test
while on gluten-free diet.
• Biopsies will be normal if on strict gluten-free
diet.
• You have to be consuming gluten for at least 2
months for testing to be done.
STOOL TESTING FOR CELIAC
DISEASE
• ENTEROLAB, A LABORATORY IN DALLAS
TESTS FOR GLUTEN SENSITIVITY BY
LOOKING FOR GLUTEN ANTIBODIES IN THE
STOOL.
• ALTHOUGH THESE TESTS HAVE NOT YET
BEEN VALIDATED BY OUTSIDE
LABORATORIES OR THROUGH PEER
REVIEWED RESEARCH.
• THESE TESTS ARE NOT USED BY
PHYSICIANS TO DIAGNOSE CELIAC
DISEASE.
TESTING FOR CELIAC DISEAE
•
There are five blood tests commonly used to detect celiac disease,
and they're usually used together, since no one test provides all the
answers.
• If your body is undergoing an autoimmune reaction to gluten, one
or more of these blood tests most likely will come up positive,
indicating the need for further testing to see if you truly have celiac
disease.
• However, it is possible for you to have negative blood test results
and to still have celiac disease. Some people have too little of a
particular antibody (a condition called IgA deficiency- 10 % OF
POPULATIN), and require different blood tests to screen for celiac
disease. In a few other cases, the blood test results simply don't
reflect the amount of intestinal damage present.
• Therefore, if your blood tests are negative but your symptoms and
family medical history still indicate a strong possibility of celiac
disease, you should talk to your physician about further testing.
TESTING FOR CELIAC DISEASE
• GENETIC TESTING MAY NOT BE COVERED BY
INSURANCE.
• CELIAC DISEASE ASSOCIATED WITH HUMAN
LEUKOCYTE ANTIGEN CLASS II.
• 95% HAVE HLA DQ2
• 5% HAVE HLA DQ8
• HOWEVER, 30% OF NORMAL POPULATION HAVE
HLADQ2 & HLA DQ8 AND ONLY 1% GET CELIAC
DISEASE
• BUT IF YOU ARE NEGATIVE FOR HLADQ2 AND
HLADQ8 -YOU DO NOT HAVE CELIAC DISEASE
CHECKING FOR DIET
COMPLIANCE
• LAB TESTING FOR TISSUSE
TRANSGLUTAMINASE IgA at least 6
months after gluten free diet.
BIOPSIES FOR CELIAC DISEASE
• Despite advances on endoscopic 'in-vivo'
diagnosis, histology examination of the
small intestine remains the diagnostic gold
standard for celiac disease. In a
multicenter study, the lesion was limited to
the duodenal bulb in 2.4% of 665 children
with celiac disease.[54••] These data
suggest that biopsy specimens should be
obtained from both the duodenal bulb and
the distal duodenum.
NUMBER OF BIOPSIES
• CELIAC DISEASE IS A PATCHY
DISEASE
• Only 2 biopsy specimens will lead to a
confirmed diagnosis of CD in 90%, and a
suspected diagnosis in all. For 100%
confidence in diagnosis of CD, 4 duodenal
biopsy specimens should be taken.
SCALLOPING CAN BE
SEEN DURING
ENDOSCOPY
• Scalloping of duodenal folds as well as a mosaic
mucosal pattern, decreased folds, and increased
vascularity are markers of duodenal mucosal
injury, the most common cause being celiac
disease. However, scalloping is seen in patients
with a variety of conditions other than celiac
disease. Including eosinophilic enteritis,
giardiasis, tropical sprue, human
immunodeficiency virus-related diseases
including human immunodeficiency virus
enteropathy.
CELIAC DISEASE BOOK
• VERY INFORMATIVE AND WELL
WRITTEN-CAN GET ON AMAZON –
CHEAP- USED LIKE NEW.
THE END!
• THANKS FOR YOUR
ATTENTION
• ANY QUESTIONS
ARE WELCOME