1. What is your most interesting case of celiac disease? 2. How common is celiac disease in women with amenorrhea? 3. If a woman is diagnosed with celiac disease, should she be screened for any other conditions?
1. What is your most interesting case of celiac disease?
I had a patient who presented in her late 20’s with what appeared to be simple athletic amenorrhea. She was in graduate school getting a PhD at the time, but at one time had been an elite long-distance runner ranking 5th in the world. She quit running competitively because “she hit a wall” in her mid-20’s and her running times started to slide. We treated her with office-based cognitive behavior therapy to get her to wean down her running, which was still more than 20 miles a week recreationally. She resumed regular menses and shortly thereafter conceived spontaneously.
She has a preterm delivery and had trouble conceiving thereafter even with assisted reproduction. A decade later she contacted me to ask if she could come to see me again. She lived out of town. She presented with chronic fatigue. She worked in an academic medical center and had been seen by a neurologist who told she had a mitochondria muscle disorder diagnosed via muscle biopsy. She wanted a second opinion because there was no treatment for the neurological condition and she was unable to go more than a few hours without a nap.
She had had to quit her job and was having trouble being a parent due to the need to nap every few hours. Of note, her daughter had asthma and eczema. The patient/mother had no significant GI complaints. Per her request, we made a full differential diagnosis and then excluded every possible diagnosis we entertained. Needless to say, celiac disease was on the list and she tested positive for anti-tTG antibodies. She immediately changed her diet and within a month she was back to having a full schedule. She is now a fully-engaged career woman in her 50’s and reports that she has more energy than at any time before in her adult life. It is said that elite athletes have a higher prevalence of celiac disease, but this has not been established. The theoretical mechanism is that running causes splanchnic stimulation and gut hyperemia that results in excess exposure of the GI crypts, where the immune cells reside, to food antigens. To the best of my knowledge, this relationship has not been confirmed. However, this case illustrates that celiac disease, which may have begun in her mid 20’s and may have been at least in part responsible for her decline in athletic competitiveness, may remain occult for many years. If we had known to screen for celiac disease, we should have done so at her initial evaluation. It may have prevented both the obstetrical complications and the secondary infertility.
2. How common is celiac disease in women with amenorrhea?
No one has a definitive answer. The screening tests for celiac disease continue to evolve. Now the testing is reliable, sensitive, specific, and widely available at reasonable cost, but the test is relatively new and clinicians are generally unaware of the need to screen or the availability of the testing. It is now possible to conduct good epidemiological studies to answer this question.
3. If a woman is diagnosed with celiac disease, should she be screened for any other conditions?
This is a matter of opinion. Gluten enteropathy is associated with other autoimmune conditions such as insulin-dependent diabetes mellitus, autoimmune thyroiditis, both Hashimoto's and Grave's disease, Addison's disease (autoimmune adrenal insufficiency), and irritable bowel syndrome as well as other allergic manifestations such as eczema and asthma. Although it remains to be established, it would appear that the most common autoimmune concomitant of celiac disease is autoimmune thyroiditis, which can be detected with anti-thyroid antibodies such as anti-thyroid peroxidase (anti-TPO) and thyroid stimulating immunoglobulin (TSI). The most important group to screen for autoimmune thyroiditis are women attempting conception because the mother is the sole source of thyroxine for the developing fetus in the first trimester and the predominant source of thyroxine in the second and third trimesters. Thyroxine is known to be critical for fetal neurodevelopment and the thyroid production of thyroxine in women with clinically occult autoimmune thyroiditis may be insufficient to keep up with the demands of pregnancy, especially if the woman conceives via assisted reproduction (Alexander EK et al. NEJM 2004;351:241-9) or controlled ovarian hyperstimulation (Muller AF et al. JCEM 2000; 85:545-8). At least one study showed fetal neurodevelopmental compromise in pregnant women with unrecognized autoimmune thyroiditis (Haddow et al. NEJM 1999; 341:549-55).
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Â© International Society of Gynecological Endocrinology - n.41 February 2010