| Identifier |
neuro_ophtalmological_manifestations_of_celiac_disease_lee |
| Title |
Neuro-Ophthalmological Manifestations of Celiac Disease |
| Creator |
Andrew G. Lee, MD; Dylan McBee |
| Affiliation |
(AGL) Chairman, Department of Ophthalmology, The Methodist Hospital, Houston, Texas; Professor of Ophthalmology, Weill Cornell Medicine, New York City, New York; (DM) Class of 2024, Baylor College of Medicine, Houston, Texas |
| Subject |
Celiac Disease; Autoimmune Disorder; Gluten Sensitivity |
| Description |
Summary: Systemic Celiac Disease Pathophysiology: • Celiac Disease is characterized by a gluten sensitivity that leads to an autoimmune response • Abnormal HLA-mediated presentation of gluten proteins in the gut leads to the production of antibodies including IgA secretory antibodies Symptoms: • GI: May include diarrhea, weight loss, bloating often found in kids, and foul-smelling stools • Neuro-Ophthalmic: Not limited to Myositis, Optic neuritis, nystagmus, double vision or vision loss. Diagnostic Workup for Celiac Patients should include: • Serological Marker o An important serological marker for celiac disease is the presence of tissue transglutaminase (tTG)-IgA antibodies • Endoscopy o characteristic findings of atrophic villi +/- inflammatory process in small intestine. The etiology of neuro-ophthalmic manifestations in celiac patients is two-fold: 1. Inflammatory response characteristic of autoimmune disorders 2. Vitamin deficiencies resulting from malabsorption in the gut. Inflammatory Response: • Neuro-ophthalmology patients may present with one or more autoimmune disorders in addition to celiac disease - Hashimoto's, Graves', and thyroid eye disease. • Presentation may also include Myositis or Optic neuritis. Characteristic vitamin deficiencies and corresponding symptoms include: 1. Vitamin A may lead to nyctalopia and/or pseudotumor cerebri 2. Vitamin B1 causing Wernicke's encephalopathy (ataxia, ophthalmoplegia, altered mental status, nystagmus) 3. Vitamin B9, B12 causing peripheral neuropathy and optic neuropathy 4. Vitamin B6 producing peripheral neuropathy 5. Vitamin E producing ophthalmoplegia. Treatment: Gluten-free diet. |
| Transcript |
So, we are going to be talking about the neuro-ophthalmologic manifestations of celiac disease. Celiac disease is sometimes referred to as gluten enteropathy because it is gluten sensitivity that leads to the autoimmune response that is the basis of celiac disease. I am not going to cover all the GI aspects; I am only going to cover the neuro-ophthalmic aspects. But, in general, when you are exposed to a foreign protein in your gut, in this case gluten, your body usually has no problem with that. But some patients who have some predisposing HLA predisposing genetic factors have a propensity for there to be abnormal recognition of that gluten protein and the production of antibodies. Those antibodies have a number of different names. The ones where we are normally focusing on are the immunoglobulins in the in the gut. That is the IgA secretory antibody, and they have a number of different names. The prototype of course would be the tissue transglutaminase (tTG) and if we have IgA for tTG that is kind of the serologic marker. But there is a whole bunch of other antibodies which I don't have time to cover and you can look those up on your own and ophthalmologists would not be expected to know these. And, in the biopsy or at the time of the endoscopy, the patient has a characteristic finding which is the villi are atrophic and we may or may not see the inflammatory process on the biopsy. So the combination of symptoms, diarrhea and weight loss - in a kid they might have more bloating and abdominal symptoms, foul-smelling stool etc. So, when we have a neuro patient who has got a history of chronic recurrent diarrhea, chronic recurrent weight loss, and neuro-ophtho findings, we should be considering celiac disease in the differential diagnosis of that patient. And the things that come to us in neuro-ophtho are both the autoimmune problems from the antibodies, and that those can be any autoimmune disease because as you know once you have one autoimmune disorder, you are more likely to have others. So, the common ones are thyroid eye disease, Hashimoto's, Graves' disease, but you can also present to us as Orbital Myositis or Optic Neuritis. Basically, any kind of "itis" can be the result of autoimmune disease (that is what that word means). And the second is the absorption problem - and the absorption problem is a vitamin deficiency. So, when you have chronic diarrhea, chronic gut disease, and weight loss it can be absorption problem in the vitamins and the most common ones that we see are vitamin A, which produces the nyctalopia, but also interestingly can cause pseudotumor cerebri - just like excess vitamin A causes pseudotumor cerebri. That person might have night blindness and need an ERG and otherwise have unexplained vision loss worse at night. The B vitamins, Thiamine of course, the Wernicke syndrome that can cause ataxia and ophthalmoplegia and mental status change and nystagmus. B9 and B12, which produce the neuropathy - both the peripheral neuropathy and the optic neuropathy. B6 produces peripheral neuropathy and then vitamin E, which produces an ophthalmoplegia. The other vitamins all can be decreased too but these are the three predominant ones that we're going to be testing for ophthalmoplegia. and looking for in the neuro-ophtho clinic: vitamins A, B1, B6, B9 and B12 and vitamin E for ophthalmoplegia. So, you need to know a little bit about celiac disease, not all the details but just in any patient who has a neuro-ophthalmic finding - vision loss, double vision, nystagmus, chronic diarrhea, and weight loss. We are going to be thinking about the HLA predispositions and we are going to order serologic tests for the gluten-related antibodies. We are going to do a biopsy and do an endoscopy to look for the characteristic finding in the villi of the small intestine. And amazingly, the major treatment is to stop eating gluten. So, the gluten-free diet by itself might make all the problems go away. |
| Date |
2021-04 |
| Language |
eng |
| Format |
video/mp4 |
| Type |
Image/MovingImage |
| Collection |
Neuro-Ophthalmology Virtual Education Library: Andrew G. Lee Collection: https://novel.utah.edu/Lee/ |
| Publisher |
North American Neuro-Ophthalmology Society |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Rights Management |
Copyright 2019. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s66t6jb1 |
| Setname |
ehsl_novel_lee |
| ID |
1680610 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s66t6jb1 |
