Parsteiner Blog

Archive for the ‘Disease’ Category

Has the link to the leaky gut and autoimmune disease become more clear? I believe it has and researchers from Canada have helped by a nice review on intestinal permeability in the British journal Gut.

Dr. J. B. Medding and his colleagues in Edmonton, Alberta Canada (Arrieta, Gut, 2006) describe how the intestine serves as a barrier when normal but becomes a source of the genesis of autoimmune diseases when it becomes abnormally permeable. That is, when your gut becomes leaky (“the leaky gut syndrome”) several autoimmune diseases are known to occur.

Intestinal permeability (how leaky the gut has become) can be evaluated in a manner specific to various sites in the gut. That is, the different areas of the gut, from stomach to large intestine, can be evaluated by specific tests for leakiness and related to damage and disease in those areas. Areas of leaky gut can be observed prior to the onset of disease and appear to be involved in the development of disease, especially autoimmune diseases like Celiac disease, diabetes, Crohn’s disease, as well as skin diseases like atopic dermatitis, rheumatologic conditions, and even irritable bowel syndrome.

The authors propose a new paradigm consisting of “three main features…

(1) A genetically susceptible immune system (the mucosal immune system), that allows the host to react abnormally to an environmental antigen.

(2) An environmental product that triggers the disease process.

(3) The ability for the environmental agent to interact with the mucosal immune system. Since the purpose of the epithelial barrier is to keep these two factors separate, and we measure this function of the barrier by permeability, the corollary of this is that an increase in permeability is a requirement for disease expression.”

What does this mean in lay terms and in relationship to the concept of the leaky gut syndrome? The gut or intestine is supposed to be a barrier to foreign proteins like foods and bacteria. If your immune system is genetically predisposed to react adversely to a certain food proteins and/or bacteria in your gut (or nerves, skin or joints) you may react with activation of damaging chemicals intended to protect you from foreign invaders that instead damage your gut making it more leaky and more vulnerable as well as your nerves, skin, and joints.

Leaky gut begets leaky gut. What results is more damage to your gut. Food and bacterial proteins can act together to damage the gut and allow toxic protein complexes to get through the gut that is normally supposed to be resistant to such a breach. Once in your blood stream, foreign proteins may initiate abnormal reactions that cause irritation to your brain, nerves, skin and/or joints.

What many of you and I experience then are symptoms such as abdominal pain and bloating, gas, diarrhea, headaches, nerve pain, skin rashes and joint aches. The diagnoses that result are Celiac disease, Crohn’s disease and irritable bowel syndrome, multiple sclerosis, migraines, attention deficit, autism, depression, eczema, acne, rheumatoid arthritis, fibromyalgia, diabetes, chronic fatigue etc. etc.

What really concerns some of us with personal and professional experience with this and who are passionately interested in this area is that there is an explosion of autoimmune diseases occurring right under our nose yet most doctors and lay public are missing the connection. Many people are being diagnosed with multiple conditions without anyone making the connection of the overload of our gut with certain foods that may be causing much of these illnesses. All of the problem foods have specific food proteins or lectins that are difficult to digest and potentially toxic to the gut. In particular if the food has been genetically engineered or modified their lectins may be more toxic to humans. Stay tuned for more on this exciting area, as I continue writing on the relationship of food, gut and disease. As your food doctor, the food doc, I hope to help you find the information you need to eat right to feel right even if your doctors are not making the connection.

Bibliography:

Arrieta MC, Bistritz L, Meddings, JB. Recent advances in clinical practice. Alterations in intestinal permeability. Gut 2006;55:1512-1520.

Incoming search terms for the article:

Genetic tests exist for Celiac disease and are highly accurate for determining the risk of the disease. When a complete genetic panel is performed the possibility that someone having or ever getting this autoimmune disease can be determined to an extremely high degree of certainty. Unfortunately, some tests are misleading because they do not include a portion of the genetic pattern that may be present that can predispose to this gluten sensitivity disease though the report may imply absence of increased risk.

Some genetic tests can be done without a doctor’s order. Insurance coverage for the Celiac genetics is highly variable. A couple of laboratories can run the tests on samples obtained from a mouth swab that is painless and well accepted by children. Genetic testing can be done at any age while blood tests for Celiac are not recommended before a year of age. Celiac genetic tests are not affected by eating gluten or not.

If you do not have the commonly recognized HLA genetic patterns DQ2 or DQ8 that are associated with Celiac disease you are believed to not be at risk for the full autoimmune disease. You don’t need to be periodically retested. However, you still could be intolerant or sensitive to gluten. Knowing your genetics can be very helpful if you have a family member with Celiac disease or they or you have other autoimmune diseases associated with a risk of Celiac.

HLA DQ2 and DQ8 are the simple designations for complex white blood cell patterns or types that are known to be associated with an increase risk of Celiac disease. The HLA term stands for human leukocyte antigen. Leukocytes are white blood cells. Antigens are proteins that serve or elicit an immune response by the body. So, the HLA system is a complex set of proteins on the surface of white blood cells. Everyone has two copies of a DQ protein pattern. You get one copy of DQ from your mom and one from your dad. Having at least one copy of either is necessary and sufficient to develop the disease. Having two copies of either or one of both increases the risk even more.

These protein patterns are inherited just like the red blood cell proteins that constitute what is commonly known your “blood type”. I, for example, am A positive blood type. This means I have a pattern of proteins designated A and Rh+ on the surface of my red blood cells. On the other hand I have a white blood cell type pattern DQ2/DQ7 inherited from my parents. My Dad gave me a DQ2 and my Mom the DQ7. You have two DQ patterns on your white blood cells that you received from your parents and you give one of your DQ types to each of your children.

Since only a single copy of either DQ2 or DQ8 can be associated with an increase risk of developing Celiac disease, most laboratories test for the presence of either and simply report their presence or absence. However, knowing if you have one or two copies not only provides additional information about degree of your risk. It also may predict the severity. It also provides information about your parents and your childrens’ risk of inheriting an at risk gene. If you have DQ2 and DQ8 we know your complete DQ pattern. We also known one of your parents had at least DQ2 and the other DQ8. All of your children will either get a DQ2 or a DQ8. So, both your parents and all of your children are at risk for Celiac in that situation. If you have only copy of DQ2 or DQ8 then we only know that at least one of your parents had one copy of the risk gene and each of your children will have a 50-50 chance of inheriting such a risk gene from you.

Other non-HLA genetic factors are involved in the risk of celiac disease. These are still being worked out. However, one poorly understood and little known fact to most doctors and almost all patients is that HLA DQ2 and DQ8 testing done by some laboratories does not include the full spectrum of at risk components of these patterns. DQ2 and DQ8 are a summary blood type designations or serotypes for the presence of several protein subunits. There are alpha and beta subunits to these protein patterns. The beta subunit is the most influential and important component. Most laboratories only test for and report the beta subunit. However, the alpha subunit does carry risk on its own, albeit much less than the presence of the beta subunit or the presence of both alpha and beta subunit.

The most commonly used laboratories for celiac disease genetic testing in the U.S. are Kimball Genetics, LabCorp, Quest, Prometheus, and Enterolab. The Laboratory at Bonfils in Denver not only provides testing directly but also does the testing for several hospitals, Quest and Enterolab. Bonfils only does beta subunit testing. They report results of DQ2 and DQ8 negative based on the absence of the beta subunits associated with DQ2 and DQ8. However this is somewhat misleading since someone could have only the alpha subunit and be “partially” DQ2.

Though the risk of being “half” DQ2 positive from only having the alpha subunit is low overall it is still there. Furthermore, there are people who may believe that they are DQ2 or DQ8 negative based on testing from Bonfils, Quest or Enterolab. These people and/or their doctor may exclude the possibility that they have or are at risk for ever getting Celiac disease when in fact this may or may not be true.

The existence of DQ2 and DQ8 negative Celiac disease has been debated. It is probably clouded to some degree by this confusion about the genetics. Most experts assert that the presence of DQ2 or DQ8 is a requirement to develop the disease and their absence excludes the possibility. However, reports of DQ2 and DQ8 negative Celiac disease persist.

I have a couple of patients who have the positive results for the specific blood tests for CD, endomysial or tissue transglutaminase antibody; and classic biopsy features but were reported DQ2 and DQ8 negative by laboratories who only test for the beta subunit. Ideally, they should be re-testing for alpha unit positive “half” DQ2 or DQ8 but this will depend on their insurance coverage. In the meantime, I am remain concerned that many patients and doctors may be lulled into a false sense of security by negative genetic tests incompletely done or that diagnoses of Celiac disease may be or have been withdrawn on some individuals based on incomplete genetic results.

This issue of DQ2 and DQ8 testing is further complicated by reviews on the subject that are incomplete or vague. The best reviews I have found are by Ludvig Sollid and Benedicte Lie of Oslo, Norway “Celiac Genetics: Current Concepts and Practical Applications” Clinical Gastroenterology and Hepatology 2005 and Bourgey’s 2007 review. In a recent update article by Victorien, there is a general review the genetics of celiac disease including the association of myosin IXB gene (MYO9B). However, it doesn’t explain the DQ2 or DQ8 typing well. They conclude that “To date, only HLA-DQ2 or HLA-DQ8 typing is clinically relevant…” but fail to point out that HLA DQ2 and DQ8 typing should include both alpha and beta subunits.

It is clear that both HLA and non-HLA genetic factors are important in the risk of Celiac disease. However, the absence of the high-risk genes does not preclude adverse reactions to gluten including leaky gut, skin, digestive and neurological symptoms. When genetic testing is used to try to assess the risk or exclude CD then I recommend that full testing including both alpha and beta subunit typing. Hopefully more research will better define the genetics of both Celiac disease as well as non-celiac gluten sensitivity or the so called “gluten syndrome”.

Selected References:

Bourgey, M et al. HLA related genetic risk for Coeliac disease. Gut 2007; 56:1054-1059.

Johnson, TC et al. Relationship of HLA-DQ8 and severity of Celiac disease: Comparison of New York and Parisian cohorts. Clin Gastroenterol Hep 2004; 2:888-894.

Kaukinen K. et al. HLA-DQ typing in the diagnosis of Celiac disease. Am J Gastroenterol 2002; 97(3): 695-699.

Lundin, KE. HLA-DQ8 as an Ir gene in Coeliac disease. Gut 2003; 52:7-8

Mazzarella G. et al. An immunodominant DQ8 restricted gliadin peptide activates small intestine immune response in in vitro cultured mucosa from HLA-DQ8 positive but not HLA-DQ8 negative Coeliac patients. Gut 2003; 52:57-62.

Sollid, LM and Lie, BA. Celiac disease genetics: Current concepts and practical applications. Clin Gastro Hep 2005; 3:843-851.

Wolters,VM and Wijenga C. Genetic background of celiac disease and its clinical applications. Am J Gastroenterol 2008; 103:190-195.

It’s not secret that smoking is bad for you and carries increased risk of cancer, decreased life and a boat load of other problems. However, now to add to that list, researchers have found that smoking is also very bad for most inflammatory bowel diseases (digestive problems), especially for diseases like Crohn’s Disease.

It was proven through research that smokers are more likely to have more frequent flare-ups of disease in more severe forms.

Smoking can do a few different things that lead it to have an adverse impact on the digestive system:

1. Smoking is known to decrease the blood flow to the intestines.

2. Smoking can trigger an un-needed response in the immune system

Smokers often report having a difficult time improving with medications, even stronger medications and many have reported getting worse after a surgery where infected parts of the intestines are removed.

It was also proven in research that a smoker who smokes 1 pack a day is twice as likely to need surgery again within 10 years and/or will need surgery in half the time that a non-smoker will need surgery in.

In addition to an increased risk of needing surgery, a study conducted proved that smokers were more likely to have fistulas and abcesses, which are internal infections that can be fatal in some cases. It is these internal infections that many times lead to the need for serious surgeries or excessive antibiotic exposure.

It was also discovered that children who were exposed to secondhand smoke were at an increased risk of developing digestive diseases like Crohn’s Disease.

The digest tract is resposible for extracting the nutrients out of food that are essential for survival and smoking impedes in that process.

Smokers who have digestive problems like Crohn’s Disease end up needing more intense immunosuppressive therapy and they easily double the chances of them needing surgery.

Can quitting smoking help

Research proved that those who quit for 2 years or more came back to report a decrease in flare-ups by an average of 65%! Also, when comparing the stats with those who had never smoked versus those who quit, the stats were similar – so yes, quitting smoking will help you recover from digestive diseases like Crohn’s Disease.

Antibodies for tissue transglutaminase found in the intestines of blood test negative celiac disease patients are also found in the intestine and brain in people with brain disease due to gluten. Gluten ataxia is a brain disorder characterized by balance disturbances not explained by any other cause but due to the ingestion of gluten. The disorder responds to a gluten free diet if irreversible brain damage has not already occurred. Calcifications can be seen in the brain on magnetic resonance imaging (MRI).

Deposits of gluten related antibodies have been found in brain tissue obtained on biopsy and autopsy specimens. Mario Hadjivassiliou, M.D. from Sheffield England recommends gluten ataxia be added to a list of gluten related diseases that includes peripheral neuropathy and the skin disorder dermatitis herpetiformis. He has called for a new paradigm to be accepted where celiac disease is not considered primarily as an intestinal disease.

Dr. Hadjivassiliou and colleagues recently published a report of nine patients with gluten ataxia compared with seven patients with ataxia due to other causes. They found tissue transglutaminase IgA deposition on jejunum intestinal tissue on all nine patients with gluten ataxia but none of the control patients. Brain tissue from an autopsy of one patient with gluten ataxia was also found to have IgA tTG deposits in the cerebellum, pons and medulla of the brain but not in a control brain.

Previous studies have found negative celiac blood tests in patients with gluten ataxia suggesting that they may not have celiac though they had a gluten related disease. In light of a new report that blood test negative celiac disease can have intestinal tTG and advanced intestinal damage it is curious to wonder if the gluten ataxia patients with blood tests negative are seronegative celiacs. It is increasingly appearing that there is a very broad spectrum of gluten related disease and there are non-celiac gluten related symptoms that include the brain, skin, musculoskeletal system as well as the gut.

Many patients I have seen with gluten sensitivity describe symptoms of balance difficulty, concentration problems or “brain fog”, headaches, and neuropathy and a few report symptoms such as “bug crawling” sensations and strange muscle twitches. These symptoms commonly improve with a gluten-free diet and return with intentional or accidental gluten exposure. For some, intestinal symptoms or skin rashes occur but not all. The concept of gluten as a cause of brain symptoms is still not one widely known or accepted by many doctors, especially in the United States. However in Europe, especially England, Germany and Scandinavian countries, as well as Australia and New Zealand the gluten brain-gut connection is more accepted.

Casein causing brain symptoms is also not commonly accepted by doctors in the U.S. though many lay public organizations and support groups have found a casein-free diet to be associated with improvement of brain function as well as helping autism.

What is needed is more openness of U.S. doctors to the role of diet and foods in such symptoms and diseases and much more scientific research. I ask you to join me on the journey of the food, bacteria, gut-brain-joint-skin connection to disease and health.

References:

Autoantibody targeting of brain and intestinal transglutaminase in gluten ataxia. Hadjivassiliou M. et. al. Neurology 2006; 66:373-377.

Endomysial antibody-negative coeliac disease: clinical characteristics and intestinal autoantibody deposits. Gut 2006; 55:1746-1753.

Incoming search terms for the article:

Stress is known to be a causal factor of a number of medical conditions, from obesity to heart attack. Living in today’s busy, fast-paced world means having to cope with more serious circumstances, including a more demanding workplace, family life, and financial situation. And with the United States of America’s bailout plan crashing into pieces, it’s not a surprise that more and more people are suffering from panic attacks and depression. Stress is an enemy, but this is something most people conveniently forget – and they get the full blow of the harsh consequences.

One of the many medical conditions that are related to stress is diverticulitis, a digestive disease characterized by the inflammation or infection of the diverticula. The word “diverticula” is the medical term for small pouches that develop in the wall of the colon or large intestine. This diverticular development is referred to as diverticulosis, which leads to diverticulitis when the small pouches become inflamed or get infected. Age is considered a factor in the existence of diverticulitis – older people tend to get hit by the condition more often than the younger ones. People who are overweight or obese are also more prone to getting the disease than those who are not. And, according to a recent study, people who live stressful lives are bound to develop the condition than those who know how to handle, manage, and fight stress.

Only 20% of diverticulosis patients suffer from the disease’s progression or further development into diverticulitis. The study mentioned earlier found out that the missing link in this equation is stress. Stress is the primary factor that causes diverticulosis, a generally benign condition, to turn into diverticulitis, a serious one that can lead to potentially life-threatening complications. Want to know more? Read on and find out how diverticulitis and stress are related.

It’s no secret that stress disrupts proper digestion and causes the digestive system, among other systems in the body, to deteriorate. This is because when the body is under stress, there is difficulty in delivering oxygen to and circulating blood in the digestive tract. When diverticula form in the intestinal wall, your digestive system fights them off with all its might, which collapses when oxygen and blood are suddenly withdrawn. This is when inflammation and infection are likely to take place, right at the moment when the body’s defenses become weak. It is thus vital to the prevention of diverticulitis that stress be eliminated from your body.

There are a number of ways to get rid of stress. If stress is ever-present in your life, it is best to consult a psychiatrist or therapist so you can have the treatment you need. However, if you know that the stress you’re feeling is manageable, there are plenty of exercises and activities for stress relief that you can do throughout the day. For one, devote at least five minutes after every task you’ve completed to breathe in and breathe out. Breathing is all you need to shake of detrimental feelings of anxiety, as well as make you calm and focused once more.

The colon is a very important organ that performs a very vital function in the human body. The colon is responsible for eliminating a large bulk of wastes formed from the digestive process, and is sort of the sewerage system in a person. It is thus important to maintain the health of the colon because improperly functioning bowels can cause disastrous problems in the body. Knowing about diseases that the colon may acquire can help in keeping one’s colon health in check.

Colon disease vary in their gravity, some may just be mild irritation while others can be a threat to life. The four most common kinds of colon disease include non-cancerous polyps, ulcerative colitis, diverticular disease and Crohn’s disease.

Polyps

Colon polyps are basically abnormal growths of tissue that appear in the lining of the colon, protruding into intestine’s canal. While polyps are normally not serious, they can develop cancer cells later if not detected early. There are three subtypes of polyps and polyp-related diseases: ordinary polyps, familial adenomatous polposis, and Lynch Syndrome.

Ordinary polyps occur sporadically among people aged 40 to 60. These polyps may progress into cancer within ten years, and thus they are often removed with colonoscopy. Familial adenomatous polyposis or FAP is a hereditary disease that is characterized by the occurrence polyps in the colon by the hundreds or even thousands, with great chances of developing cancer and thus treatment entails removal of the colon. Lynch Syndrome is another hereditary condition that is more common than FAP, although less common than ordinary polyps, and unlike FAP, which occurs as early as age ten, Lynch Syndrome usually appears as late as the 40s or as early as the 20s.

Ulcerative Colitis

Ulcerative colitis is characterized by the inflammation in the mucosa, the deepest lining of the colon or rectum. Ulcers or small open sores would form on the lining’s surface, producing blood, pus and mucus. Around 500,000 to about two million people in America suffer this disease and most of the patients are below the age 30.

Ulcerative Colitis usually manifests with abdominal pain, rectal bleeding, constipation, bloating, diarrhea, fatigue, fevers, or weight loss. Patients who experience excessive bleeding may also develop anemia and malnutrition, especially for children. The symptoms of this disease can disappear and reappear within months or years.

Diverticular Disease

Some people develop pockets in the walls of their colon, these pockets are called dierticula and their presence is what doctors refer to as diverticulosis while their inflammation is called diverticulitis. Complications can happen when infection reaches diverticula. The pockets may rupture causing bowel blockage or leaking of the bowel wall. Another great danger is the introduction of harmful bacteria causing abscesses and even small tears in the colon walls that could lead to life threatening abscesses in the abdomen.

Many people who have diverticular disease may not know about it because diverticulosis usually do not have symptoms. At most, people have mild cramps, constipation and bloating. Diverticulitis on the other hand manifests with abdominal pain, soreness around the lower left side of the abdomen, fever, vomiting, nausea, chills, and cramping. The gravity of these symptoms greatly depends on the extent of complications and infection.

Crohn’s Disease

Crohn’s disease, which is also known as enteritis or ileitis, is a digestive tract disease characterized by the chronic inflammation of the colon and other parts of the digestive tract. It affects about 500,000 to two million Americans and can recur over a patient’s lifetime. Oftentimes, Crohn’s Disease is hard to detect because it has similar symptoms to other colon disorders like ulcerative colitis and irritable bowel syndrome.

The usual symptoms of Crohn’s disease are abdominal pain, cramping, diarrhea, weight loss, fever, anal pain, bloating, anal drainage, rectal abscesses, joint pain, skin lesions and fissure. Some patients bleed to the extent of developing anemia. Crohn’s disease may stunt the growth and development of children due to the malabsorption of protein and other important nutrients.

Crohn’s disease may sometimes result into ulcers that could tunnel to surrounding tissues and areas such as the vagina, and bladder. Fistulas, or abnormal tunnels, may also result from Crohn’s disease.

Knowing about colon diseases is just a small part of keeping one’s digestive health on the right track. Regular checkups for colon disease or other illnesses are necessary to ensure good health and general well being.