Downs Syndrome and Celiac Disease

Depending on the study, the prevalence of celiac disease in children with Downs syndrome is estimated to be as high as 4-17%, compared with just 1% in the general population. Autoimmune conditions are much more common in DS, celiac disease included. However, the cause for this is still unknown. DS is caused by an extra chromosome 21. It is not a genetic disorder, but often the result of abnormal cell division. The DQ2 and DQ8 genes that are highly associated with CD are on the HLA markers on chromosome 6. Since these genes are present in 30-40% of the US population, the increased prevalence of CD in DS is probably not due to the genes, but to some other unknown trigger.

What we do know is that there is a link between the two. Children with DS are more likely to have “silent” CD than the general population, making it even more difficult to diagnose. Often there are symptoms that go away once on a gluten free diet that weren’t thought to be associated. Most studies suggest a mass screening for CD in children with DS, however, it is not being done. In particular, if your child has DS along with one of the following symptoms, you should get them tested:

  • Any bowel disorder
  • Failure to thrive in reference to Down’s syndrome specific reference charts
  • Abdominal distension
  • Depression or unhappiness
  • Arthritis
  • Rash
  • Thyroid disease
  • Any autoimmune condition
  • Anemia

One negative test is not enough to rule your child for celiac disease, and annual tests are recommended. Finding out your child has celiac disease while they are still young can protect them from future health problems later in life including lymphoma, osteoporosis, and other autoimmune conditions.




A book titled The Gluten Effect makes a few interesting points. In one study of 123 patients with fibromyalgia, 73% were suffering from IBS. While 2% of the population has fibromyalgia, 9% of patients with celiac disease have the condition, much higher than the normal population.

This link actually argues that fibromyalgia is NOT associated with celiac disease because those with fibromyalgia have been found to have decreased serotonin, the argument being that there is a biological underlying issue to fibromyalgia (low serotonin) that cannot be attributed to celiac disease. BUT, in a study from 2006, it was found that those with celiac disease absorb less of the amino acid tryptophan. Tryptophan is the precursor to serotonin and decreased levels of this amino acid are directly related to decreased levels of serotonin (Margutti P, Delunardo F, Ortona E.). Coincidence? I don’t know.

What are the symptoms of fibromyalgia? Fatigue, insomnia, chronic pain, muscle and joint pain, numbness, tension/migraine headaches, memory/cognitive difficulties. Let’s look at some of these in Cleo Libonati’s book, Recognizing Celiac Disease:

75% of CD patients complain of fatigue at their time of diagnosis (including both Nadine and myself). This is primarily due to nutritional deficiencies: iron, magnesium, protein and vitamin C.

Insomnia is due to the reduction of the synthesis of neurotransmitters in the central nervous system. This can result from multiple malabsorptions in CD: vitamin B6, B-complex, magnesium, thiamin, calcium, EPA and especially tryptophan (remember this one? It is needed to make melatonin AND serotonin!).

Muscle pain is common in CD, resulting from multiple vitamin and mineral deficiencies: thiamin, vitamin C, E, K, niacin, pyridoxine, vitamin B12, magnesium or selenium.

Joint pain, or arthritis, is caused by inflammation damaging joints or connective tissues. It is an autoimmune condition, and is thought to have an outside cause. Celiac disease is in fact an autoimmune condition that causes inflammation throughout the body. In celiac disease, when your body is exposed to gluten, in produces antibodies against itself, known as tissue tranglutaminase (TTG for short). These can cause several autoimmune conditions to occur, one of which is arthritis and pain in the joints. Furthermore, there are several deficiencies that can lead to arthritis. Omega-3 deficiency is found to exacerbate psoriatic arthritis, though the reason is unknown. Vitamin C deficiency can cause rheumatic pains in the legs and can cause arthritis that often mimics rheumatoid arthritis.

In a study of patients with celiac disease and migraine headaches it was found that 64.5% had late on-set celiac disease, showing that even though there is a correlation, it might not be due to deficiencies. However, in the remaining 35.5% with childhood onset celiac disease, malabsorption of folic acid has been linked. Migraines are often the result of reduced blood flow to the brain. A gluten free diet has been shown to normalize this blood flow leading to improved/resolved migraines. Just a personal interlude here. While I don’t suffer from migraines, it is something that runs in my family on my maternal side: my sister, grandmother and uncles. I have two genes for celiac disease, one from my mother, increasing the chance that the relatives on that side have the gene, too. While most haven’t gone gluten free yet (I’m still working on them), my sister has. Her mind splitting migraines, that have existed since she was six, have virtually disappeared in the last 6 months that she has been on a gluten free diet.


Hoggan, R. (1996 , July 26). Fibromyalgia and celiac disease. Retrieved from—By-Ronald-Hoggan/Page1.html.
Libonati, C. (2007). Recognizing celiac disease. Pennsylvania: Gluten Free Works Publishing.
Margutti P, Delunardo F, Ortona E. Autoantibodies Associated with Psychiatric Disorders. Current Neurovascular Research. January 2006; 3: 149-157.
Petersen, V, & Petersen, R. (2009). The Gluten effect: how “innocent” wheat is ruining your health. True Health Publishing.


Celiac Disease-Autism Link

The latest statistics say that 1 in 91 children have a diagnosis of autism. At the same time, it is now estimated that 1 in 100 individuals has celiac disease. Both of these conditions have paralleled each other in their increasing diagnosis over the years and recently, parents have been making the link, putting their children on gluten/casein free diets. However, what is behind the association between gluten and autism? Is there a link? Several studies say there is.

An association has been observed between children who have gastrointestinal symptoms and a family history of autoimmune disease as well as language regression (Valicenti-McDermott, McVicar, Cohen, Weshil, Shinnar, 2008). The study included 100 children with autism spectrum disorder. According to their parents, those with language regression more frequently suffered from abnormal stool patterns (40% versus 12%) and 24% of the children with language regression had an increased family history of celiac disease or IBD while none of the children without language regression did.

A smaller study of only 21 patients with autism found that 9 of the participants had an increased intestinal permeability compared to the control group (D’Eufemia, Celli, Finocchiaro, Pacifico, Viozzi, Zaccagnini, 1996). The study does not mention celiac disease, but it is important to note that it is a well known cause of increased intestinal permeability.

We are fairly certain that yes, a link between celiac disease and autism is there. But has it been shown that a gluten free diet might help ease the symptoms of autism? A 5-year-old boy diagnosed with severe autism and suffering from gastrointestinal symptoms was placed on a gluten free diet and given nutritional supplements in a clinical study (Genuis, Bouchard, 2010). Not only did his GI symptoms quickly resolve themselves, but his symptoms of autism also progressively subsided.

So does celiac disease have the potential to cause autism? And how does it do this? As the study of the young boy suggests, malabsorption as a result of celiac disease can lead to nervous system dysfunction thereby causing developmental delays. Another study mentions that the malabsorption of tryptophan in particular can lead to decreased central nervous system synthesis of serotonin (Margutti, Delunardo, Ortona, 2006).  They continue to discuss that autistic individuals have increased anti-brain autoantibody production. This includes autoantibodies to the serotonin receptor specifically. Children with autistic disorders have also been found to have high rates of IgG for brain-endothelial cells. While not mentioning celiac disease directly, they concluded that autoantibodies may be a causative factor for the development of autistic disorder syndrome.

Still a third study looks for celiac disease not in the autistic children themselves, but in their mothers (AtladOttir, Pedersen, Scient, Eaton, 2009). For the first time children of mothers who have celiac disease were found to have a three times greater risk for autism. The link is still not fully understood, but is thought to be due to deficiencies during pregnancy and/or prenatal antibody exposure. It is important to note that celiac disease is genetic. If the mother of a child with autism has celiac disease, it is highly possible that her child does as well.

While it is unlikely that celiac disease is behind all causes of autism, it is worth taking into account these recent studies. If you or your child has autism, look into a trial of a gluten/casein free diet.

 AtladOttir H, Pedersen M, Scient C, et al. Association of Family History of Autoimmune Diseases and Autism Spectrum Disorders. Pediatrics [serial online]. August 2009;124(2):687-694.
 D’Eufemia P, Celli M, Finocchiaro R, Pacifico L, Viozzi L, Zaccagnini M, et al. Abnormal intestinal permeability in children with autism. Acta Paediatr 1996; 85:1076-9.
 Genuis S, Bouchard T. Celiac disease presenting as autism. Journal Of Child Neurology [serial online]. January 2010;25(1):114-119.
 Margutti P, Delunardo F, Ortona E. Autoantibodies Associated with Psychiatric Disorders. Current Neurovascular Research. January 2006; 3: 149-157.
 Valicenti-McDermott M, McVicar K, Cohen H, Wershil B, Shinnar S. Gastrointestinal symptoms in children with an autism spectrum disorder and language regression. Pediatric Neurology [serial online]. December 2008;39(6):392-398.

Sarcoidosis and Gluten Intolerances

As someone who has been diagnosed with Lofgren’s Syndrome in the past, I was curious as to whether this acute form of sarcoidosis might be linked to my more recently diagnosed gluten intolerance. Several studies have shown links between celiac disease and sarcoidosis, a multisystemic inflammatory disease of unknown cause. One article in particular does a great job linking together the similarities:

“There is evidence suggesting that both sarcoidosis and celiac disease may be the result of defective antigen processing. Genetically, sarcoidosis is a complex disease with varying gene polymorphisms determining susceptibility and phenotype. In particular, the class II haplotype, HLA-DR3/HLA-DQ2, has been shown to be increased in several cohorts with sarcoidosis, and has also been linked to other autoimmune disorders. Interestingly, susceptibility to celiac disease is linked to HLA-DQ2…”  (Hwang, McBride, Neugut, and Green 977-81)

Another study reviewing the presence of gluten intolerance and gastric immunity discovered these two conditions in a staggering 40% of their patients with sarcoidosis (Papadopoulos, Sjoberg, Lindgren, and Hallengren 525-31). And yet another earlier article found that intraepithelial lymphocytes (IELs) and circulating antibodies to alpha-gliadin (AGA) were significantly raised in sarcoidosis (McCormick, Feighery, Dolan, O’Farrelly, and Kelliher 1628-31). And in case you weren’t aware, increased IELs and AGAs are typical in celiac disease as well.

If you have sarcoidosis, or have dealt with this condition in the past you might want to bring up celiac disease with your doctor.

And, if you are in the area, Nadine will be presenting an “Introduction to Gluten Intolerance and Celiac Disease” at the Portland sarcoidosis support group meeting on Saturday, January 30th and to the Albany support group on Saturday, February 13th.


Hwang, Elizabeth, Russell McBride, Alfred I. Neugut, and Peter H.R. Green. “Sarcoidosis in Patients with Celiac Disease.” Dig Dis Sci. 53. (2008): 977-81. Print.

McCormick, P A, C Feighery, C Dolan, C O’Farrelly, P Kelliher, F Graeme-Cook, A Finch, K Ward, M X Fitzgerald, D P O’Donoghue, and D G Weir. “Altered gastrointestinal immune response in sarcoidosis.” Gut. 29. (1988): 1628-31. Print.

Papadopoulos, K.I., K. Sjoberg, S. Lindgren, B. Hallengren, and P Kelliher. “Altered gastrointestinal immune response in sarcoidosis.” Gut. 29. (1988): 1628-31. Print.



Associated Disorders of Celiac Disease

Anyone with these associated diagnoses should be tested for Celiac Disease OR should consider a Gluten Free Diet for at least a month.

  • IBS/IBD, GERD, Any Gastrointestinal Disorder
  • Chronic Anemia, Blood Disorders
  • Migraine Headaches
  • Neuropathy
  • Any Skin Rash, Eczema, Psoriasis
  • Osteoporosis/Osteopenia
  • Chronic Fatigue Syndrome
  • Fibromyalgia
  • Arthritis
  • Lymphoma
  • Cancers, Bowel and others
  • Turner’s Syndrome, Down Syndrome, William’s Syndrome, IgA deficiency
  • Infertility
  • Any Other Auto-Immune Disorder (Thyroid Disorders, Type 1 Diabetes, Sjogren’s Syndrome, Liver Disease, Arthritis, Lupus, Multiple Sclerosis, Sarcoidosis, Cardiomyopathy, Addison’s Disease)
  • Aphthous Stomatitis/ Canker Sores
  • Allergies
  • Asthma
  • ADHD, Autism, ODD, ADD
dermatitis herpetiformis

CD and Your Skin

The skin is highly affected by patients with untreated gluten intolerance. Dermatitis herpetiformis is widely recognized as being associated with CD/GI, however there are other skin issues that can result, but often go unnoticed.

Dermatitis herpetiformis is a skin condition affecting at least 25% of patients with celiac disease. It is caused by IgA deposits in the papillary dermis (right underneath the top layer of skin). These deposits are the result of epidermal tranglutaminase auto-antibodies. The rash is usually extremely itchy, and can be painful. The red skin eruptions are described as being on the limbs, trunk and scalp- that covers pretty much EVERYWHERE on your body. Like celiac disease, DH is often undiagnosed. In a study by Pfeiffer in 2006 says, “Suspecting and then searching for dermatitis herpetiformis is often clinically challenging, as the disease is a true chameleon with many clinical faces.”

Other skin issues in celiac disease can also be the result of multiple deficiencies. Zinc is essential for the repair and renewal of skin cells. Zinc deficiency can lead to eczema, psoriasis, acne, nasal polyps, and darkening skin. Zinc is also needed for the conversion of essential fatty acids into other compounds. Deficiency of omega-3 fatty acids can lead to dry skin and hair, which can be mistaken as eczema, as well as hard, dry, itchy papules called prurigo nodularis. Vitamin A deficiency can lead to pityriasis rubra pilaris, a type of dermatitis leading to thick, scaling skin and often associated with anemia. Iron deficiency can lead to a pruritic skin rash, a fancy term for “itchy skin”.

Still, untreated celiac disease can lead to even more skin issues not related to deficiencies. Scleroderma, causing hyperpigmented, taut shiny skin that looks like you had facial chemical peel gone wrong.  Seborrhea, a sebaceous gland disorder causing scaly patches and bumps on the skin. Vitiligo and the permanent loss of melanocytes. Erythema nodosum. Ichthyosis. Melanoma. Each of these skin disorders have a much higher prevalence rate in untreated celiac disease.

Skin conditions can be slow to heal on a gluten free diet, but strict adherence is successful in clearing up the painful and itchy issues in most cases. Skin conditions caused by deficiencies are the quickest to heal. The good news? A gluten free diet will, at the very least, halt the progression of the condition.

If you have an itchy rash, or unidentified skin condition anywhere on your body, we recommend getting tested for celiac disease and trying a gluten free diet.