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Delay in Diagnosis of Celiac Disease

This is my first grade photo. This was taken right before I began to show signs and symptoms of Celiac Disease. Although it takes, on average, 10 to 13 years after the initial onset of symptoms for a patient with Celiac Disease to be diagnosed, in my case it took almost 30 years.

Undiagnosed, and hence, untreated, Celiac Disease is associated with anemia, osteoporosis, arthritis, infertility, central nervous system damage, and the development of other autoimmune diseases. Celiacs with longstanding exposure to gluten are also at an increased risk of cancer of the digestive system. Although some of these problems, such as anemia and infertility, are reversible once gluten free, others are not. My autoimmune thyroid disease (Hashimoto’s thyroiditis), which I suspect is due to decades of gluten exposure, will never go away.  Through the internet I have interacted with tons of other people with Celiac Disease with long delays in diagnosis (some not until their 50s or 60s). Anecdotally, it seems like a lot of us have multiple autoimmune issues, such as lupus, multiple sclerosis, fibromyalgia, and/or irritable bowel syndrome, as well as multiple food intolerances. It is unclear whether or not we would have developed these additional autoimmune problems had we removed gluten from our diets decades earlier, when we first started to show signs and symptoms of Celiac Disease. My gut tells me that we would have…

There was an interesting study published in Wales in 2007 in which the medical records of patients with Celiac Disease were reviewed. Celiac patients had a significant increase in number of subspecialist consultations in the years before diagnosis, seeing on average 5 different consultants. People with Celiac Disease also had symptoms of depression, anxiety, anemia, and diarrhea in much higher numbers than patients without Celiac Disease prior to diagnosis; 41% had a history of depression and/or anxiety. Swedish researchers examined the quality of life of 1500+ patients with Celiac Disease, both pre- and post-diagnosis, and found, not surprisingly, an improved quality of life for Celiac patients once diagnosed and treated (see link).

Last of all, a case report of a women diagnosed with Celiac Disease in her mid-forties (named Mrs. J) was published in a large medical journal called JAMA in 2011. Mrs. J’s main symptoms of Celiac Disease were recurrent miscarriages and chronic anemia. While I highly recommend that all of you read the article if you can, I am going to cut and paste a few of Mrs. J’s questions after diagnosis and the experts’ answers to her:

Could my miscarriages have been related to celiac disease? Currently the typical newly diagnosed patient with celiac disease is a woman around the age of 40 years who has had symptoms of celiac disease for over a decade. Given that active celiac disease has nutritional and direct inflammatory consequences on fertility, the reproductive life of many patients is irreversibly affected. In particular, the risk of miscarriage appears higher in women with untreated celiac disease compared to the general population. For these reasons, clinicians should maintain a very low threshold for celiac disease testing in this population.

Has my body sustained any irreversible damage from celiac disease over the years? The small intestinal mucosa has enormous regenerative capacity in both health and disease. Even individuals with longstanding, severe celiac enteropathy can expect to achieve complete or near complete intestinal healing with gluten avoidance and nutritional support, although the length of time to healing varies from less than one year to more than five years and healing is associated with younger age at diagnosis and improved GFD adherence. Outside of the intestine, however, healing is not always assured. A number of extraintestinal manifestations of celiac disease such as dermatitis herpetiformis, anemia, and joint pain, typically improve significantly or resolve within the first year of treatment, as was seen in Ms. J. One of the most common associations with celiac disease is reduced bone mineral density (BMD) which is seen in at more than 50% of patients at diagnosis. Although there is often a significant improvement in BMD over the first year of treatment with a GFD, up to 21% of patients will have persistent osteoporosis. There are multiple neurologic manifestations of celiac disease, some of including peripheral neuropathy and headaches which resolve, while case studies suggest that other manifestations including ataxia, may stabilize but rarely improve. Finally, there is a potential increased risk of secondary autoimmune disorders related to longstanding untreated celiac disease, and once triggered, these will not respond to gluten withdrawal.

My hope is that no child with current symptoms of Celiac Disease will have to wait 20+ years for diagnosis, like so many of us did. We need to prevent Celiac-associated problems, such as infertility, neurologic complications, and other autoimmune diseases, from developing in the first place, so that children with Celiac Disease can have an improved quality of life as adults!

References:

1. A case-control study of presentations in general practice before diagnosis of coeliac disease. Cannings-John R, Butler CC, Prout H, Owen D, Williams D, Hood K, Crimmins R, Swift G. Br J Gen Pract. 2007 Aug; 57(541):636-42.

2. Delay to celiac disease diagnosis and its implications for health-related quality of life. Norström F, Lindholm L, Sandström O, Nordyke K, Ivarsson A. BMC Gastroenterol. 2011 Nov 7;11:118.

3. Celiac disease diagnosis and management: a 46-year-old woman with anemia. Leffler D. Source Department of Gastroenterology, Beth Israel Deaconess Medical Center, and Department of Medicine, Harvard Medical School, Boston, Massachusetts 02215, USA. dleffler@caregroup.harvard.edu. JAMA. 2011 Oct 12;306(14):1582-92.

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2 thoughts on “Delay in Diagnosis of Celiac Disease

  1. Molly (Sprue Story)

    I’m sorry it took so long for you to get a diagnosis! Thank you for sharing your story and all these links. Now that people are becoming aware of celiac disease, I think it’s especially important that we push awareness past the old understanding of symptoms & diagnosis (i.e., young child with diarrhea). It’s great to see you speaking up about other symptoms!

  2. Jess Post author

    Hi Molly,
    I agree that we need to talk about all of the emerging information about symptoms, diagnosis, complications, etc. I don’t think that many realize that Celiac Disease is a lifelong autoimmune condition and that those who are not diagnosed are at such a high risk of developing additional autoimmune diseases and complications. I have encountered a ton of people with symptoms of possible Celiac Disease who do not want to get tested because they do no want to find out that they have it and then have to stop eating their favorite foods. There is only so much we can do and although I know that I cannot change others’ behaviors, I feel that it is my duty to share the information which I come across in the medical journals.
    Thanks so much for reading! And keep up the good work on your blog.
    Jess

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