Saturday, December 26, 2009

Redheads, Inflammation, and Celiac Disease

As I mentioned in previous blogs, when the gene for the melanocortin 1 receptor (MC1R) does not work on skin melanocyte cells, it causes the individual to have red hair and fair skin. But recent studies show that MC1R is not only expressed on skin melanocyte cells, where it determines pigment. It is also expressed on antigen-presenting and other immune cells, including monocytes, macrophages, mast cells, T and B cells and dendritic cells, where its primary role is to down regulate inflammation and allergic response. Basically, when these cells encounter an inflammatory environment, they increase the number of MC1 receptors and produce more α-melanocyte stimulating hormone (α-MSH) to put out the fire. Since the MC1 receptor genetically doesn’t function in the skin melanocyte cells of redheads, then can it conceivably be hypothesized that it also doesn’t function, or that its function is significantly compromised, in these other immune cells where it also appears, possibly compromising a redhead's defense against allergic and inflammatory conditions? One possible example of an allergic and inflammatory condition to which redheads might be vulnerable is Celiac Disease.

Redheads and Celiac Disease

When I first started researching redheads and health, one of the first studies I encountered related Celiac Disease to the melanocortin 1 receptor, the gene responsible for red hair. At the time, my sister who is a redhead had recently been diagnosed with Celiac Disease, and I wondered if there was some sort of connection between the two. Celiac Disease is a food intolerance to a gluten protein found in grains including wheat, rye, oats, barley, triticale, spelt, and kamut. It affects approximately 1 in 133 Americans, and it causes damage to the intestinal villi, which results in malabsorption of nutrients and intestinal permeability (leaky gut), which may lead to other food allergies or intolerances. Celiac Disease is considered to be a multi-system, multi-symptom disorder. Celiac Disease is strongly associated with the human leukocyte antigen (HLA) molecule, which is a gene encoded on alleles DQ2 and DQ8. Approximately 92 to 98 percent of patients with Celiac Disease carry the HLA-DQ2 gene, while the remaining 2 to 8 percent of cases carry the HLA-DQ8 gene. Celiac Disease symptoms are extremely varied, can often mimic other bowel disorders and are not always gastrointestinal. Infants, toddlers, and young children often exhibit growth failure, vomiting, bloated abdomen and behavioral changes. Symptoms of Celiac Disease may include one or more of the following:

* Abdominal cramps, gas and bloating
* Anemia
* Borborygmi (stomach rumbling)
* Coetaneous bleeding
* Diarrhea
* Easy bruising
* Epitasis (nose bleeding)
* Failure to thrive
* Fatigue or general weakness
* Flatulence
* Fluid retention
* Foul-smelling or grayish stools that are often fatty or oily
* Gastrointestinal symptoms
* Gastrointestinal hemorrhage
* Hematuria (red urine)
* Hypocalcaemia/ hypomagnesaemia
* Infertility
* Iron deficiency anemia
* lymphocytic gastritis
* Muscle weakness
* Muscle wasting
* Nausea
* No obvious physical symptoms (just fatigue, overall not feeling well)
* Osteoporosis
* Pallor (unhealthy pale appearance)
* Panic Attacks
* Peripheral neuropathy (nerve damage)
* Stunted growth in children
* Vertigo
* Vitamin B12 deficiency
* Vitamin D deficiency
* Vitamin K deficiency
* Vomiting
* Voracious appetite
* Weight loss
* Obesity

In a study by Colombo et al. regarding Celiac Disease, it was found that the production of α-MSH and the activity of MC1 receptors in the goblet cells of the damaged atrophic intestinal villi of untreated Celiac patients significantly increased when exposed to gliadin (a glycoprotein of gluten). It was postulated that this increased activity was for the purpose of putting out the fire of inflammation and protecting the gut from further damage. The study suggested that if a Celiac patient has poor compliance with a gluten-restrictive diet, the administration of pharmaceutical α-MSH might be therapeutic. But were there any redheads with Celiac Disease in the study? If so, did they also exhibit enhanced production of α-MSH and MC1 receptor activity? In general, do the MC1 receptors on goblet cells in the intestine of a redhead also work to protect them from the damage of inflammation since this receptor is known not to work on the skin melanocyte cells of redheads?

It should be noted that both the Celiac Disease genes and the red hair gene are common to those of European ancestry. Those who are born with and continue to have flaming red hair through adulthood are “hard-wired” genetically to have loss of function of MC1R in skin melanocyte cells and possibly immune cells; whereas, the Celiac Disease genes may be asymptomatic, latent or silent and then turn on like a “lightswitch” due to adverse environmental or lifestyle conditions. Redheads with genetic Celiac Disease markers may not have the defense of fully functioning MC1 receptors on immune cells in the digestive tract to protect them and may be predisposed to gastrointestinal inflammation, which creates a stressful environment that could ultimately cause the Celiac Disease genes to come out of latency. In other words, just as the exterior skin of a redhead is vulnerable to damage from ultraviolet radiation from the sun, the interior “skin” or intestinal tract of a redhead might also be vulnerable to the stress and damage of everyday digestion. It’s possible that if redheads with Celiac Disease gene markers are not following a gluten-restrictive diet, not only would the fire of inflammation in the intestinal tract rage on, but also the proposed treatment with the pharmaceutical α-MSH hormone might be ineffectual.

I suggest that if you are a redhead, and most especially if you are exhibiting any symptoms of Celiac Disease noted above, that you get tested. There are a few tests that you can take:

*A genetic DNA test - this will tell you whether you have a genetic tendency towards the disease

*A blood test for Celiac Disease immune markers - this test indicates whether you might be having an immune reaction to gluten.

*A biopsy of the small intestine - this is the only test that can confirm whether you indeed have developed Celiac Disease. You must be eating gluten regularly at the time of the test for it to be accurate. Full atrophy and partial atrophy of the intestinal villi confirms that you are reacting to gluten. (Please note that some doctors only recognize full atrophy of the intestinal villi as confirmation of Celiac Disease so be sure to get a copy of the test results.)

If a redhead has a genetic predisposition towards Celiac Disease, a lifelong gluten-restrictive diet (avoiding wheat, rye, oats, barley, triticale, spelt, kamut) may be a preventive measure to ensure long-term health and vitality. Long-term consequences of undiagnosed Celiac Disease can lead to intestinal cancer, neurological and autoimmune disorders, and even death. For support and more information, please visit and Please also see Therapeutic Diets for Redheads.

Even if a redhead does not have the Celiac Disease gene markers, wheat and glutinous grains can still cause allergies or gastro-intestinal disturbances due to their difficulty to digest and their over-consumption in the modern diet, particularly of wheat. If a redhead does not have the Celiac Disease genes, but is still showing signs of allergy or intolerance to gluten or wheat, one or both may need to be removed from the diet for three to six months, introduced and observed for reaction (provocatively tested), and if no reaction, included on rotation every fourth day. Whole grains that are soaked overnight with lemon juice or whey or fermented then cooked may be better tolerated than those that are not. Many redheads may also happily partake of non-glutinous organic grains such as brown or wild rice, quinoa, millet, buckwheat, teff or amaranth. Minimal consumption of grains is recommended for redheads depending on their sensitivities.

Glutinous grains, especially refined glutinous grains, are usually over-consumed and one of the biggest culprits for weight gain, so restricting gluten may have the added benefit of weight loss. But in case you need that chocolate chip cookie or cake for an occasional indulgence, there a lot of delicious gluten-free options available now. Look for boxes that are marked "gluten-free" in your local natural grocery. There are also some great specialty bakeries in more urban areas available.

I myself have never gotten a DNA test to see if I have the gene for Celiac Disease. After my sister was diagnosed, I did get a blood test which showed that I had high anti-gliadin antibodies which indicated some sort of allergic reaction to gluten. Since other autoimmune diseases run in my family, including Multiple Sclerosis, and since my sister has a confirmed case of Celiac Disease, I decided to restrict gluten from my diet, and I'm so happy that I did! I feel that a gluten-restrictive diet was very instrumental to my resolving my digestive problems. Somehow I still found a way to occasionally indulge in cookies, cake, and pizza -- as the 20 pounds I've recently gained keep reminding me, but for me that's a good thing, because my Celiac Disease symptom was weight loss. I was too thin! So it all worked out.

Some supportive books, blogs, and websites for Celiac Disease and digestion:

Gluten Free Girl and the Chef Blog

Dr. Doherty's C-liac Vitality Supplement Packets


  1. Hi,
    My daughter is 9 and has red hair. She had and endoscopy and colonoscopy last year which "ruled out" celiac disease. Her antigliadin antibody was 80 intitially and after going gluten free, has RISEN to over 100. My daughter has dental enamel defects as well. She has upcoming dental work to fill 3 cavities and try to salvage her 6 year molar. She had poor pain control when the filling was placed initially. I have read that redheads need more anesthetic for procedures (the GI doc agreed, but our dentist seems to think she can't possibly be having pain during the procedures as she has been given so much novacaine.
    Any thought?
    Thanks, Lisa

  2. Hi Lisa,
    I apologize for taking so long to get back to you. My father recently passed away and I was out of town.

    May I ask what were the original symptoms that caused your doctor to order an endoscopy and colonoscopy? I recommend getting a copy of the endoscopy and colonoscopy lab results and examining them more closely. I heard a speaker at the NANP conference mention that some physicians only consider it to be Celiac Disease if there is full atrophy of the intestinal villi (as opposed to partial atrophy), yet partial atrophy can also cause symptoms. A second opinion could always be helpful or you may consider consulting a complimentary holistic practitioner such as a naturopath who can do additional preventive testing such as a comprehensive diagnostic stool analysis test. This is a test that western medical doctors normally do not do.

    Sometimes it is helpful to also go casein/dairy free initially until the inflammation calms down (in addition to going gluten free). A colleague of mine named Julie Matthews at Healthful Living does nutrition consulting for children and often recommends a gluten/casein free diet.

    I've never heard of antigliadin readings rising after going gluten free, but there are so many ingredients with gluten that you have to be very diligent in reading all labels to avoid it. At, there is an unsafe and safe food list posted. With a 9 year old it may be very difficult to follow a strict gluten-free and/or dairy free diet. There may be cross contamination with glutinous foods within your kitchen e.g. using the same butter, toaster, silverware, etc. You will need to keep her food and possibly her utensils, plates completely separate. She may also be getting gluten accidentally at school or over at friends’ houses because she likely misses it and craves it. You may also consider reducing refined sugars and simple carbohydrates as they also can contribute to gut inflammation. I realize that a 9 year old can be a very picky eater so do your best.

    Regarding dentistry, you may consider consulting a holistic dentist who does not use amalgam fillings. Amalgams have a small amount of mercury in them, and it has been debated whether amalgam fillings are healthy to use in the same way that it is debated whether thimerosal in vaccines is safe to use. I don’t really know if it is true or not. I haven’t researched it (Julie has) but why take the risk?

    Regarding pain, please also read my blog post Redheads and Pain Tolerance:

    Good luck and I hope that this information is helpful.

  3. Some helpful books:

  4. Hi,
    I have two sons with red hair, the oldest is 4 1/2 and has your color exactly! He was diagnosed with hydrocephalus at 4 months, type 1 diabetes at 12 months (at which time the doctors said his hydrocephalus had resolved on it's own), peanut and egg allergies at 14 months, mild asthma when he has a respiratory virus at 3 years old and dust and cat allergies at four years old. He also suffers from excema, it comes and goes. He has been tested for celiac and thyroid disorders, not because he was showing any real symptoms but because they are often standard tests for diabetics. I was just wondering if you have come across any research that shows a link between red hair and type 1 diabetes? All of his stuff is autoimmune and I have always wondered if the red hair plays a part in any of it. I also have a two year old son who so far only has mild excema and intermittent asthma when he gets a cold. If it is relevant at all Miles who has diabetes has blue/grey eyes and Felix the youngest has brown eyes. I have brown hair and my husband has dark brown hair with a bit of red in his beard. He was also diagnosed with type 1 last spring and has mild asthma.

  5. I just read my comment and should have clarified that his thyroid and celiac tests came back negative. They will test him every year.

  6. Dear Liz,
    I apologize that it has taken me so long to respond to you. You have 2 redheaded sons! My! You are blessed indeed! They must be very precious to you and quite a colorful handful.

    I have not done research on correlation between redheads and type 1 diabetes. It sounds like type 1 diabetes may be genetic on your husband’s side of the family, is that correct? Both the red hair gene and type 1 diabetes (a combination of genes) are common to those of European ancestry. As I mention above, red hair may create an inflammatory environment and when adding another autoimmune genetic component like type 1 diabetes to the mix then problems may be more likely to surface and those genes switch on.

    What kind of Celiac tests are they giving your son - is it a DNA test? a blood test? or a small intestine biopsy? Only a biopsy can confirm Celiac Disease and some doctors think that full destruction of the intestinal villi is Celiac Disease, and that partial destruction of the villi is not Celiac Disease. However, partial destruction of villi may indicate a gluten sensitivity and a gluten free diet may be helpful. It is important to read and research the lab test results and what the readings mean. Also, it is important to note that wheat and gluten can also cause other types of reactions besides intestinal - skin, behavioral etc. My skin has been much better since being off of gluten.

    You can always try a casein/gluten free diet as an experiment and see if it helps calm anything down (I include books in my blog). What might also be helpful is Vitamin D-3 supplementation (600 IU daily) unless they are getting a lot of daily sun but probably not because their skin would burn to a crisp! Poor babies!

    Also try some pro-biotic supplements like Jarrow Formulas Yum Yum dolpholus. The max recommended on the box is 4 a day.

  7. Wow! I'm so glad to find this post. I'm a redhead and struggling with some issues I am pretty sure are related to wheat. Have pretty intense muscle pain/tightness that just seemed like a chronic thing and part of the aging process (I'm only 36). Experimented to try to see if anything changed it and went of wheat. Had it accidentally after being off it for 2 weeks and had a reaction within an hour (!). Going to see a rhumatologist after 2 positive ANA blood tests (negative celiac blood test). Will follow some of the leads you suggested. Thanks!

  8. I am a redheaded female; at 65 mostly red and white. I am of Swedish and Northern German descent. Red hair runs on both sides of my family with 3 of my grandparent's having had red hair. There are many autoimmune diseases that run in our family. I had Guillain Barre Syndrome 11 years ago. Was wondering if you have any knowledge of the relationship to redhair and the disorder? I was reminded of this yesterday on Andy Griffiths' passing. I remember that he also had GBS in his life, and have noticed as a younger man he had a dark reddish head of hair

  9. Hello, thank you for this post. I belong to a group of Apraxia/ Autism parents on facebook and we are making the common observation that many children with apraxia tend to have red hair, or have a parent with red hair. I am going to post this article today. Thanks again.