Patient J


The following is adapted from a case presented in the Journal of the American Medical Association (JAMA).
JAMA (2011)306(14): 373-381.

Ms. J is a 46-year-old woman who lives in the greater Boston area. She has generally been in good health. Ms. J has been anemic since her first pregnancy 20 years ago.

She transferred to a new physician about 5 years ago. At that time, her hematocrit percentage was in the low 30s. Although her ferritin level was low (7.2 ng/mL), her iron level increased into the normal range with supplementation. She reported heavy menses at the time, which was though to be the cause of her anemia.

What is hematocrit? Was Mrs. J's hematocrit normal?

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What is ferritin?

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In March 2010, Ms. J presented for routine care and was found to have a hematocrit of 26% with a mean corpuscular volume of 78 fL (femptoliters; normal range 80-96 fL). She reported much lighter menses, and epigastric discomfort, for which a trial of a proton pump inhibitor was recommended. Given these findings, her internist referred her for an endoscopy.

Mean corpuscular volume refers to the size of the red blood cells. Ms. J's low hematocrit and low mean corpuscular volume indicate that she has microcytic anemia, a type of anemia where red blood cells are small and often pale in appearance. Microcytic anemia is typically caused by iron deficiency. 5 years ago, Ms. J had iron-deficiency anemia that appeared to be due to menstrual blood loss, a common cause in women. Now, she has iron-deficiency anemia despite the fact that she is taking an iron supplement and has lighter menstrual periods.

A biopsy taken during her endoscopy showed villous shortening and an increased number of intraepithelial lymphocytes, consistent with celiac disease.

What is meant by the term villous shortening?

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What are intraepithelial lymphocytes?

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Celiac disease was once considered a rare disorder that occurred only in children, causing diarrhea and serious malabsorption. Now it is recognized that celiac disease is much more common, having a prevalence of 1% or more in some populations.

While celiac disease may present with diarrhea and malabsorption in young children, in many adult cases it presents with a wide variety of rather vague symptoms. Ms. J was referred for endoscopy because of epigastric pain, which has many causes. Often epigastric pain arises due to gastroesophageal reflux, which is why Ms. J was given a trial of a proton-pump inhibitor, a drug that reduces gastric acid secretion.

Ms. J has iron-deficient anemia that persists despite iron supplementation. Why is this another hint that she might have celiac disease?

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Further testing revealed a normal tissue transglutaminase IgA level (anti-tTG) at 14 units (reference range 0-19), but an elevated anti-deamidated gliadin peptide (anti-DGP) level (IgA/IgG at 104 units (reference range 0-19).

Ms. J was diagnosed with celiac disease and was instructed to follow a gluten-free diet. Her daughter was tested for celiac disease and had a negative result.

The first paragraph in the above section describes serological testing for celiac disease. The blood is tested for certain antibodies that are produced as part of the autoimmune response.  Serological testing is non-invasive and so is used to screen individuals who have an increased likelihood of having celiac disease, such as Ms. J's daughter (the risk for celiac disease in first-degree relatives is about 8%).  Serological testing is also used to confirm celiac disease diagnosis made with duodenal biopsy.

Ms. J's comments:
When I first was told that I had celiac disease, I didn't really know what to think because I hadn't really heard of it before. They told me that I was never going to be able to have any type of wheat, rye and barley products again. At first I thought, it's just a temporary thing, and then, when I realized that I could never really have any of that food again for the rest of my life, I was in denial...I started the diet right away. Since I've been on it I dropped 15 pounds, my iron level has gone up, and my joints don't hurt anymore. I just feel overall better than I did.

It's very difficult to be on a gluten-free diet.  I find it very hard to go out to eat.  We used to go out to eat as a family once a week; now, it's very difficult because not all the restaurants have gluten-free menus, and the ones that do have gluten-free, you don't know what goes on in the kitchen.

Shopping at the grocery store is also very difficult. It's very expensive, especially in this type of economy. One loaf of bread is $7!

This really is a lifestyle change, and the hardest thing is to know that I can never eat these items for the rest of my life.

At present the only treatment for celiac disease is life-long adherence to a gluten-free diet. As Ms. J describes, a strictly gluten-free diet is difficult, time-consuming, and costly. The doctor's recommendations to Ms. J include consultation with a dietitian who is skilled in celiac disease counseling. With adherence to a gluten-free diet and nutritional supplementation, she should be able to achieve clinical remission.

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For those who are interested in reading the original paper, the reference is: "Celiac Disease Diagnosis and Management: A 46-Year-Old Woman with Anemia" JAMA 306(14): 1582-1592 (link)
[URL: http://jama.jamanetwork.com/article.aspx?articleid=1104502]

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