New Celiac and Autism Research

Every year I get my fundraising letter from Dr Fasano at the Celiac Center at UMass. What I love about the letter is that he highlights some of the studies that they are doing at this time. They are doing some really cool stuff! (what I hate is that it comes on paper in the mail, so I had to paraphrase and type all of this stuff into the computer rather than give you a link to click on) Once again; I am predicting that many of the big breakthroughs on celiac and autism will come from Dr Fasano and the gang at UMASS Center for Celiac Research and Treatment.

-Collecting Diapers for Celiac Research for their  Celiac, Genomic, Environmental, Microbiome and Metabolomic Study. Basically, they are collecting stool, blood and other tissue samples from infants and mothers from the US, Italy and Spain. They have more than half of the 500 babies already enrolled. The goal is to understand why some people who are genetically at-risk will go on to develop celiac disease; while others who are at risk don’t develop it. By studying many factors along with the microbial colonies in the gut, they hope to ultimately prevent celiac disease before it begins. Well, if I was a baby and had a diaper, I would enroll myself in this study.

-Building an Intestine in the Lab where they are using intestinal tissue from volunteers to grow intestinal “organoids”. They use the 3D mini organoids to study the effects of different drugs and pre/probiotics on the human intestine. I am glad to see this study happening because I remember Dr Fasano saying on one of his visits to the cafe that his fear is that pre and probiotics may be overused and we might become immune to them like what is happening with antibiotics.

-Connecting the Mind and the Gut: the “enteric nervous system” is like our “little brain: in our guts and it’s communication with our “big brain” can have enormous effects on our mood and health.  I remember Dr Fasano saying “the gut is not like Las Vegas; what happens in the gut does not stay in the gut”.  Parents of kids with Autism have been saying this for about 20 years!  I am so glad to see this area being really researched. Recent results (Dr MR Fiorentino’s lab) showed an altered blood-brain barrier and impaired intestinal barrier could very well play a role in neuroinflammation in those with Autism Spectrum Disorders. They hope to make significant contributions to discovering a mechanism that could be used for prevention. (The belief used to be that the body and brain have different immune systems and are separate and therefore don’t communicate; but researchers at UVA discovered the link via the lymph nodes. I blogged about this 2 years ago)

-Celiac Education and Outreach: Celiac Symposium last April and outreach and donations for food for hurricane victims.

The Center for Celiac Research and Treatment is dedicated to improving the quality of life for patients with celiac disease, while learning the cause of the disease and finding a cure.  However, due to reductions in the NIH  (National Institute of Health) Budget they are reliant more than ever before on donations!  

This is one cause that I scrape up some money to support each year.  donate here

Learn More Here

 

New Info From the 2017 GF Education Day

On Sunday June 11,  I had the pleasure to attend and speak at the Washington DC Gluten Free Education Day again this year. Each year this great event is made possible by the Celiac Disease Program at Children’s National Medical Center. In addition, our bakers Emily and Jennifer did a cooking demonstration of our quick breads.  I spoke about the pitfalls of FALCPA (Food Allergen Labeling and Consumer Protection Act) and the GF Labeling Act and also gave some hints for easy weeknight meals.

This was a wonderful event for those who were newly diagnosed and those who are long time Celiacs got to learn what was new.  There were many activity sessions for children and so many well qualified speakers for adult sessions,  Unfortunately, I could not attend them all.  However, I was most impressed by the keynote presentation; The State of Celiac Disease- Current Research, Latest Advances and Mass Screening Protocols. Below are my notes from the session.

Dr Ivor Hill, Nationwide Celiac Disease Center Ohio; The Quintessential Autoimmune Disorder

-We know more about Celiac Disease than any other autoimmune disease! In 1888 Samuel Gee stated that diet would be the only cure. In 1950 William-Karel Dicke identified wheat, rye and barley as the problem.

-Factors in Celiac Disease are genetics, environmental factors, diet and other unknown triggers.

-Testing Recommendations are antibody blood testing, intestinal Biopsy and Genetic HLA Screening.

-Other grains that may be problematic for Celiacs are: Teff, Oats, Millet because they are in the same family! (Yup, they are a problem for me)

-Genetics; HLA and non HLA Genes found on chromosome 6, you can have DQ2 or DQ28 or both..they are necessary but not sufficient. There are many different versions of DQ2 and DQ8 genes with 40 different mutations associated. There is an autoimmune overlap.

-Trigger Factors; age, progression, prevalence, infections (rotovirus, adenovirus, stress, pregnancy and the Microbiome (lining of intestines) which is a trigger factor and is very different in those with Celiac.

-Research Treatments; Gluten Detox; grain modification is problematic due to the peptides in wheat. Glutenase; enzyme to relieve symptoms after gluten exposure is questionable because our stomach acid can destroy the enzyme.

-Peptide Transport Blockage; problematic…Lorazotide prevents opening of tight junctions in intestine that would let gluten in, but it only lasts about 90 minutes.

-Antibody Blockage or Nexvac 2 will only target those with gene HLA DQ 2.5.

-Future Research: He feels that the future will identify more genes involved in Celiac Disease. Right now half of all cases are cases of people who are asymptomatic.

Dr Edwin Lui, Colorado Children’s Hospital Celiac Disease Center; Is it Time for Mass Screening?

-Celiac Disease is not rare. Right now in the US the rate is 1.3%, Finland is 2% and Sweden is 3% (1984-1996 of all 12 year olds).

-Incidence of Celiac Disease is rising and more people are developing it.

-Who should we screen? Many have no symptoms. Those that are at risk are:

Those with: Type 1 Diabetes (3-12%), Autoimmune Thyroid Disease (7%), Liver Disease, Rheumatoid Arthritis, IgA Deficiency, Downs Syndrome, Turner Syndrome, Pancreatic Disease, Kidney Disease, Addison’s Disease, Parathyroid Disease, Growth Hormone Deficiency, Family History.

-40% of population is at risk of developing Celiac Disease because they have DQ2 or DQ8 genes.

-Following children in Denver study found that 3% developed Celiac by age 15 while 5% developed the antibodies.

Dr Benny Kerzner, Celiac Disease Program Children’s National Health, Wash, DC; Best Practices for Management of Celiac Disease

-Dr Snyder, Dr Liu, Dr Fasano, etc, got together to set guidance for physicians for the care of those with Celiac Disease. Here are a couple of interesting points that he made. Some of this is new information for many of us!

-Check newly diagnosed Celiac for Autoimmune Thyroid Disease, Liver (AST and ALT) and Hepatitis B. (30-70% of Celiacs are non responsive to the Hep B Vaccine if they got it before they started on GF Diet! So make sure you get this taken care of.)

-Vitamin Deficiencies usually correct on their own once following a strict GF Diet…so they don’t usually screen for them unless there are issues that warrant it.  The same for bone density, etc.

 

 

 

 

 

“No sex, age, tissue or organs are spared from effects of Celiac Disease”

This is the #1 thing you should listen to if you or someone you love has Celiac Disease or Gluten Sensitivity. If you have people in your life or even one of your doctors who doubt the serious nature of it, have them listen too! (link at bottom)

2/27/17: Dr Allessio Fasano from the Center for Celiac Research is interviewed by Dr Theresa Nacassio on her radio show.

He talks about Celiac Disease, Gluten Sensitivity, the Microbiome, Leaky Gut, neurological complications in the brain and Autism, ADHD, Dimentia, Depression, Skin (Dermatitis Herpeteformis), Probiotics, Fecal Transplants and more!  He even talks about the Non-hybridized wheat myth, GMO’s, pesticides and more.

“No sex, age, tissue or organs are spared from the effects of Celiac Disease….”

The interview starts at  4min and 55 seconds on the timer in the link. You can fast forward through commercials too.  Dr Nacassio also has lots of other links to Dr Fasano’s interviews and talks on Celiac Disease up on her site.

Click Here

Neurological/Pshyciatric Manifestations of Celiac/Gluten Sensitivity

What do Depression, Mood Disorders, ADHD, Gluten Ataxia, Autism, Neurological Issues, Migraine Headaches, Epilepsy, Seizures, White Matter on Brain and Schizophrenia; have in common? According to NIH (National Institute of Health), all of the above are also symptoms of Celiac Disease and Gluten Sensitivity which can affect adults and children!

I get asked about this so often by customers, at least once or twice a week, that I thought I would write about this in depth. Some are having multiple neurological complications from their Celiac or Gluten Sensitivity or their child is exhibiting ADHD Symptoms and stomach aches but has not been tested for Celiac Disease. (I am Celiac and also have Ataxia (Neurological symptoms; loss of balance & coordination, fumbled speech and I exhibit signs of ADHD-can’t concentrate when exposed to gluten). The shocking thing is that many in the medical community are not investigating the gluten connection by testing for Celiac Disease first! Often a child or adult are just put on ADHD medications or anti depressants and just sent on their way. Often the medicines are just addressing some of the symptoms; not the actual cause! The result is ongoing pain and suffering because the true condition is NEVER addressed. The good news is that NIH (National Institute of Health) has put solid information out there for our physicians and us to see!

First we need to understand the difference between Celiac Disease and Gluten Sensitivity. Then we will learn that psychological and neurological issues can be preset in either condition. NIH has some great information about this and will clear up any question that you or your medical provider have about the validity of these symptoms. Finally, I give you a link to these neurological and psychological symptoms; which are sometimes the only symptoms that an adult or child actually presents with. (Yes, many don’t even have any gastrointestinal symptoms or stomach aches!)

First, read this, all of it. Second, if any of this applies to you or you child, get yourself or your child tested for Celiac Disease (while still eating gluten) by a gastroenterologist who is well versed in Celiac Disease.

Celiac Disease (CD) affects about 1% of the population (about 1 in 130) and gluten sensitivity affects about 6% of the population. Even with all of the knowledge that we have now, it is believed that as many as 85% of cases of CD go undiagnosed. CD is dependent on an autoimmune reaction to gluten (the protein found in wheat, rye and barley) and is usually characterized by intestinal symptoms. Those with gluten sensitivity (GS) don’t have intestinal damage (villous atrophy) or antibodies for CD but can test positive for antibodies to gliadin. Those with CD and GS can present with many neurological and psychiatric symptoms. However, gluten sensitivity remains under-treated and under-recognized as a contributing factor to psychiatric and neurological manifestations.

In CD, the classic symptoms typically include abdominal bloating, steatorrhea (excretion of abnormal quantities of fat due to malabsorption) and weight loss. Some just present with a rash that looks like eczema, but is really the skin manifestation of Celiac Disease known as Dermatitis Herpeterormis (DH). However, there are too many symptoms to list here; so a link will follow. Diagnosis is confirmed by testing for a number of different antibodies including anti-endomysial antibodies (EMA), anti-tissue transglutaminase antibodies (tTG), and anti-gliadin antibodies (AGA).  We understand what causes the intestinal damage and the genetics related to CD.  Those genes are HLA-DQ2 or HLA-DQ8 and their other versions.

There are more than 300 signs and symptoms of CD. Click Here for List. This list is great because it describes symptoms as they affect different body systems and there is also a list of how children may present with Celiac Disease (that list is at the bottom of the link). Not everyone presents with the same symptoms..some just have bloating and constipation and stomach aches. Some just are fatigued, irritable and are moody or present with Autism or ADHD like symptoms. The intestinal biopsy used to be the gold standard.  Now there are 5 criteria for a Celiac diagnosis. Those with GS often have the same symptoms as those with CD.

Five Criteria for Diagnosing Celiac Disease and someone only has to have 4 of the 5!

1. The presence of signs and symptoms compatible with celiac disease.
2. Positive serology screening (high serum levels of anti-TTG and/or EMA).
3. Presence of the predisposing genes HLA-DQ2 and/or –DQ8.
4. Histological evidence of auto-insult of jejunal mucosa typical of celiac disease.
5. Resolution of the symptoms and normalization of serology test following the implementation of a gluten-free diet.

Click Here for More     Click Here for 4 of 5 Rule

People with GS would not fit into less than 4 of the 5 categories. GS is a diagnosis of exclusion; this diagnosis is given once CD and wheat, rye or barley allergies are ruled out. This means all of the above testing was done while the patient is still consuming gluten and did not meet 4 of the 5 criteria for CD. Then the patient is put on a Gluten-Free diet.  If symptoms resolve; you are given a diagnosis of gluten sensitivity!  (There is some evidence that GS is just an early form of CD.)

Neurological/Psychiatric complications of CD have been known to the medical community for over 40 years. Meanwhile, GS sensitive patients also have many neurological and psychiatric complications. However, based on the lack of intestinal involvement, the neurological and psychiatric complications may be the prime presentation in patients suffering from GS! Therefore gluten sensitivity may easily go unrecognized and untreated.

Studies have shown that about 22% of  patients with CD develop neurological or psychiatric dysfunction and as many as 57% of people with neurological dysfunction of unknown origin test positive for anti-gliadin antibodies. Neurological and psychiatric complications observed with gluten-mediated immune responses include a variety of disorders.

From 1953 to 2011 a PubMed literature search located 162 original articles associating psychiatric and neurologic complications to celiac disease or gluten sensitivity!  36 articles for seizure disorders, 20 for ataxia and cerebellar degeneration, 26 for neuropathy, 20 for schizophrenia, 14 for depression, 12 for migraine. There were up to 10 articles each for anxiety disorders, attention deficit and hyperactivity disorder (ADHD), autism, multiple sclerosis, myasthenia gravis, myopathy, and white matter lesions.

However, the  vast majority of research to date has not looked at CD and GS independently, so the true prevalence of the neurological/psychiatric complications with each is hard to pin down. It does call attention to the fact that GS and CD are different gluten-mediated immune responses that may be the cause of patients presenting with a host of psychiatric and neurological complications.

For more information on the symptoms listed at the top of the article (NIH) please use this link. It goes into detail about each neurological and psychological manifestation, just click on link and scroll down, good stuff in here..! Click Here for NIH Info

 

 

Cheeri-Oh-Nos, Not GF Says Canadian Celiac Association!

In the summer and fall of 2015, I spent a lot of time blogging about the sloppy processing and testing of General Mills “Gluten Free” (GF) Cheerios. Not only are they not using certified GF Oats, they are using sub-par testing methods to make their”GF” claim! Hence the nickname that I gave them; “Cheeri-Oh-Nos”! The Canadian Celiac Association has just advised those with Celiac Disease or Gluten Sensitivity not to eat them.

What happened and why have I been perpetually banging my head against the proverbial brick wall for over a year? How can this be so?  You just won’t believe it, so here is the re-cap and update.

Basically, the problem is that General Mills (GM) is using contaminated oats and “shaking” them in order to get off the offending wheat, rye and barley. Then they are using a testing method known as “means testing” to get their final ppm. A product must test below 20ppm to be called Gluten Free. So, if they make a batch of cheerios, they will  take out several samples…if one sample is 21pm, one is 80ppm and one is 5ppm..they would combine those to get the actual parts per million. Then they would keep adding in batches at lower ppm to get their 20ppm score. That is dangerous because in the end, you can mix them together over and over but there is still a high likelihood that some or many boxes will test higher than 20ppm.  The big problem is that they were not testing the final batch or boxes.

This practice resulted in many Celiacs getting sick and complaints to the FDA. Eventually GM had to recall 1.8 million boxes of GF Cheerios.  How can this be? Well, it is simple folks, the FDA does not mandate testing or a particular method for testing..they suggest that each company regulate themselves.  Yup, GM is NOT looking out for those with Celiac Disease or allergies to wheat, rye and barley!

A regular (celiac) customer came in last month and told me that his blood levels were elevated and he was having stomach problems and could not figure out why because everything he is eating is GF. He told me he would be going in for new endoscopy and biopsy in the next few weeks. I asked him, to tell me what he was eating for breakfast and he said “GF Cheerios”.   I asked when his issues started…he said around that time. He was shocked when I filled him in on the happenings. I directed him to my blog articles from last year and suggested he also do a google search and read what Gluten Free Watchdog has been saying and also suggested he remove the “GF” Cheerios and see how he does.

If you are a Celiac, Gluten Sensitive, or have an allergy to wheat, rye or barley; you are playing a game of Russian Roulette if you are eating GM’s GF Cereals.

Many of us have been outraged that the Celiac Associations in the US have not been more vocal about this. Last month the Canadian Celiac Association recommended that those with Celiac Disease or Gluten Sensitivity not eat them.  Gluten Free Living Magazine just wrote an article about this. Click Here to Read Article

 

 

Study: Gluten Sensitivity; “Celiac Lite Disease”, My Genetic Testing & More

Wow! According to an article in Reuter’s Health (July 29, 2016) written by Marilynn Larkin; a new study out of Spain by Dr Fernando Fernandez Banares found that a subset of patients with Non Celiac Gluten Sensitivity (NCGS) may actually have “Celiac Lite Disease”.  A NCGS diagnosis is only given when a person is actively consuming gluten and test negative on Celiac Blood Panel and intestinal biopsy (showing normal villi..no damage or atrophy to the villi).  If you have not had these specific tests done and just went off gluten, you don’t know if you are Celiac or not and that is dangerous..especially if you get minimum exposure to gluten via cross contamination!

As I was taking this all in, I thought about so many customers, friends and family members who are in this situation. I wanted to share this study with all of you who tested negative for Celiac and have NCGS, those of you who have not had genetic testing or have not had their skin rash biopsied for Dermatitis Herpeteformis (Celiac disease showing on skin only). I also share the results of my genetic testing for Celiac Disease.

1. Study findings of Dr Banares: 

“… these patients (the 91%) were characterized by gastrointestinal clinical symptoms within the clinical spectrum of celiac disease, presence of HLA-DQ2/8+, Marsh stage 1 lesion (increased intraepithelial lymphocytes but no villous atrophy), and a clinical and histological response to a gluten-free diet, the question remains as to whether this condition should be considered a ‘minor’ or ‘low-grade’ celiac disease (also called ‘celiac lite’ by some authors) or NCGS.” 

 “Previous studies have shown that the intraepithelial lymphocyte (IEL) count and/or the presence of anti-transglutaminase (TG2) deposits in the mucosa are biomarkers of celiac disease. In the present study, these tissue celiac markers were present in around 55% of patients at inclusion, despite their being on a gluten-free diet, suggesting a ‘celiac lite’ disease.”

Previous studies of celiac disease with (villous) atrophy have shown a permanent increase in IEL, even after a gluten-free diet, (suggesting) that this marker may provide a clue for celiac disease diagnosis and offering the possibility of identifying celiac disease patients when they are on a gluten-free diet, even when histological examination of the biopsy shows recovered mucosa.”

“This ‘proof of concept’ study suggests that there is a ‘minor’ form of celiac disease with negative celiac serology that should be taken into account in the differential diagnosis of NCGS. The presence of increased IEL count and/or TG2 deposits in the mucosa could be of help in the diagnosis of these patients. We are routinely using this diagnostic strategy in our outpatient clinic, and we think that the intraepithelial lymphogram study adds important information to the diagnostic work-up of these patients. Our recommendation is to use it in clinical practice”.  Click Here for Full Article

2. GENES: This stuff is simply amazing and easy to understand! (Who should get genetic testing? See graphic at the end.)

In the study above they looked at those who have genes that predispose them to Celiac. Those genes are HLA-DQ2 and HLA-DQ8; found on Chromosome 6. (However, there are more than 40 genes that contribute to Celiac Disease via different versions of HLA DQ2 and HLA DQ8 genes).  The risk is definitely lower but having a full Celiac genetic blood test ordered by a Gastroenterologist is something worth doing. Cheek swab testing is not capable of testing for this! The full Celiac Genetic Testing is a specific blood test that will look at all of the alleles/versions of DQ2 and DQ8 that you carry which contribute to the development of Celiac Disease. So, which genes are we talking about?

“Susceptibility to CD is linked to certain human leukocyte antigen (HLA) class II alleles, especially in the HLA-DQ region. HLA molecules are postulated to present gluten antigens to T-cells which in turn induce tissue damage.² Approximately 95% of patients with CD have the HLA-DQ2 heterodimer encoded by the DQA1*05 and DQB1*02 alleles, while close to 5% have the HLA-DQ8 heterodimer encoded by theDQA1*03 and DQB1*0302 alleles.¹ Rarely, patients will carry only one of the DQ2 alleles; ie, eitherDQA1*05 or DQB1*02.³ The HLA-DQ alleles are also found in 48% to 65% of first-degree relatives of patients with CD and up to 73% of patients with insulin-dependent diabetes mellitus; thus, these individuals are at increased risk of developing CD.¹ Other high-risk groups include those with autoimmune thyroiditis; Down, Turner, or Williams syndrome; selective IgA deficiency; or individuals with symptoms of unexplained iron deficiency anemia or premature-onset osteoporosis.”  Click here for Genetics Info

So, 95% of Celiacs have gene HLA DQ2.  However, there are hundreds of different versions (alleles) of those genes.  Meanwhile; 5% of Celiacs have different versions of those genes that can definitely lead to Celiac Disease; although the chances are smaller.  As usual, I will use myself as an example and share my genetic test results below.

After my brief gluten challenge, I had positive intestinal biopsy (showing villous atrophy) and negative blood test for Celiac. I also have Hashimoto’s Disease  (Autoimmune Thyroiditis that is most often found in those with HLA DQ2). I also had many severe vitamin deficiencies and other autoimmune diseases (many autoimmune diseases run in my family).

I was really curious about my own genetic makeup. Last month my gastroenterologist ordered the full Celiac Genetic Blood work. (Cheek swabs don’t do this type of work up..it can only be done via blood work). My long time doctor thought that I would definitely have both DQ2 and 8 based on my medical history. He was very shocked at the results when he called me!

In my case, I did not have the straight up HLA DQ2 or DQ8 genes, but I had other alleles (versions) of those genes that can lead to the development of Celiac Disease. When combined they can form the “perfect storm” scenario. Given the results of the genetic testing; I was confused, was I still a Celiac? The chances were smaller (it was 1 in 2,000) but it is likely, based on genetic testing and the versions of the genes that I carry. Along with a biopsy showing villous atrophy, clean biopsy two years later and autoimmune thyroiditis (seen in those with HLA DQ2) and other health issues that I have. Basically, a “perfect storm” has to form and I most likely formed it. My doctor and I will go over results in more detail when I see him next.  You might ask, does it mean that I can go out and eat gluten…..absolutely not, I am still considered a Celiac!  (My doctor thought I would carry both genes straight up but the full genetic work up made sense) See graphic below of those who should have HLA Genetic Testing Done.

3. DH: Your Celiac Diagnosis is hiding in a skin rash; often misdiagnosed as Eczema.

Often a person with DH (Dermatitis Herpeteformis) will test negative on blood tests and intestinal biopsy  and nobody is looking at their skin rash!  So many Celiacs get missed this way.  Those who are tested have a skin biopsy that tests positive for the disease. If you have the skin manifestation of Celiac Disease (DH); which I had, the rash can be biopsied and tested for Celiac Disease.  15-25% of those with Celiac Disease also have the DH rash.

DH can show up anywhere..in the mouth, nose, scalp, arms, legs, face, abdomen, ankles, genitals, etc. I had a raging case of DH and the worst was on my scalp. I was sent to the top dermatolagist at NIH back in the early to mid 80’s and he could never figure it out.  I took steroids, I applied steroid creams and nothing worked. He never took a biopsy of the rash and never considered food (gluten) being a cause.

Finally, when my gastroenterologist said the words “Celiac Sprue” and I went off of gluten..the rash went away..it took about 8 months for it to clear up. If I have an accidental glutening, it returns and takes 8 months to fully clear up.  If I get glutened again I get 8 more months of this rash. It keeps piling on..so if someone keeps getting gluten in their system, the rash does not go away. For me, the severity of my DH depends on how much gluten I accidentally ingested.   Currently they don’t know why some Celiacs only damage on their skin and not in their intestines and more research is needed in this area.  See a gastroenterologist well versed in Celiac Disease first and they will refer you to someone who can do the biopsy correctly (it is very specific and must be done by someone who has done it before and knows what they are doing)! Click here for info on DH

Clearly, this shows that there is so much they still don’t know about Celiac Disease and Gluten Sensitivity.  Please support those who are actively working towards solving the puzzle such as the Center for Celiac Research at Mass General! Click Here for Center for Celiac Research