Celiac disease painful and hard to diagnose

The malabsortion of celiac disease can cause both osteomalacia and B12 deficiency among other things. These can be painful. Celiac is associated with spondylitis in some cases. A recent blood test result suggested lab testing can be insensitive.

Internist (Berl). 2006 Aug 16; [Epub ahead of print]
[Clinical features and diagnosis of celiac disease.]

“Celiac disease is a life-long enteropathy caused by an intolerance to gluten. The pathologic lesion of the small intestinal mucosa is characterized by the loss of absorptive villi, crypt cell hyperplasia, and infiltration of the lamina
propria with inflammatory cells. The clinical presentation of celiac disease varies greatly depending on patient’s age, duration and extent of the disease, and the presence of extraintestinal manifestations. The classical symptoms like
diarrhea, weight loss and abdominal pain are seen less common. Unfortunately,most patients with celiac disease have either silent or atypical presentations, thus escaping diagnosis for several years. The pathologic changes and symptoms
resolve when gluten is excluded from the diet for a sustained period. Untreated celiac disease is associated with significant risk of the development of enteropathy-associated intestinal lymphoma.”

I have a 12 year old girl whose mother has celiac. She not only had IBS symptoms but an itchy rash suggestive of dermatitis herpetiformis. I ran a “celiac screen” blood workup and suggested she try her mother’s diet. Her IBS and rash cleared. Merely getting a small amount of gluten (in some cases found after the fact) she will vomit and develop abdominal pain. I don’t think there is any doubt she is celiac. Her celiac screen was not diagnostic- her Transglutaminase was near normal and it was only her Gliadin IgA that ws significantly elevated. The lab forms said the former was 100% accurate but that is obviously not the case. To be fair, the Transglutaminase does drop with gluten avoidance and is used to monitor therapy; she however was not avoiding gluten at the time. The lab suggested her IgA levels could be part of the problem but they are normal. Now I am left with some questions about some of my IBS patients. In a Lancet study, serology would have missed 3/14 celiac cases:

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=11705563To arrange a biopsy, she would have to rechallenge gluten to get denuded Villi – what do others think I should do?

see also:

http://painmuse.org/?p=126

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One Response to Celiac disease painful and hard to diagnose

  1. Pingback: Pain Medical Musing » Blog Archive » Older Celiacs With Iron Deficiency Anemia Missed

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