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23 Cards in this Set
- Front
- Back
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35YOWM of Austrian descent who is a bicycle racer. He was in good health until 6 months ago when he developed mild diarrhea and bloating; he associated this c drinking large quantities of milk after races. He talked to several family members, some of whom also thought they were lactose intolerant. He stopped all dairy products and, for several weeks, thought his Sx were better. Soon, however, the symptoms got worse and included fatigue, mild diffuse achiness, and severe flatulence. His wife had to sleep in a different room. Symptoms became so severe he had to stop riding. He spoke to his father-in-law, a physician, who told him to see a gastroenterologist. His exam at that visit was normal. Initial lab was nl. Several additional blood tests and a procedure were done.
what was it |
sm bowel biopsy, flattened villi
*Celiac disease |
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48 YOWM podiatrist with a 5 year Hx of Fe deficient anemia. He has seen multiple physicians without a Dx. Other than gradually worsening fatigue, he has no other Sx. He has a large family but rarely sees them. His brother, a trauma surgeon back east, comes to Phoenix to give Grand Rounds. In talking to his brother, the brother mentions that he has just been diagnosed with an inherited disease. Our patient is shocked but quickly seeks a new internist. His physical exam is nl. He has the following peripheral smear...
HLA DQ deficit |
celiac disease
Fe deficit anemia Hypochromic, microcytic with lots of platelets His H/H are 11/33 c an MCV of 69. He has a blood test and a procedure with the same diagnosis as his brother CELIAC DISEASE |
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38YOWF physician in excellent health. While gardening, she falls on her outstretched wrist and sustains a fracture of the distal radius (Colles Fracture). She has an ORIF and her orthopedic surgeon orders a DXA. It shows a T score of -2.6 which meets the WHO definition of osteoporosis. Based on these results, she is referred to an internist.
PMH: Illnesses: none; Surg: appy; Allergies: NKDA; Meds: OCPs and occ Tylenol; LMP 2 weeks ago which was nl. SH: married; 1-2 glasses of wine/wk; no tobacco; unable to get pregnant after extensive W/U. FH: Mother c DM; Father S/P CABG; twin sister is healthy Exam is completely nl except for orthopedic hardware. Lab: H/H 10/30; U/A, LFTs, lytes nl. TSH, ESR, LH, FSH, SPEP, 24hour urine for Ca are nl. The Vit D and Vit B12 are low. An additional blood test and procedure are done. Her twin has the same W/U and Dx. |
colles fracture- uncommon for young woman (malabs--> osteopenia, infertility, Fe deficit anemia)
anti transglutaminase AB, anti gliadin AB, celiac disease, chronic malabs bc of villious atrophy bc of immune mediated destruction HLA DQ |
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clinical of celiac
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More common diagnosed in females (see below)
• Iron deficiency y is a common presentation • Diarrhea, weight loss, and fatigue • Symptoms of nutrient deficiency ‐ osteoporosis ‐ female infertility • Dermatitis herpetiformis ‐ vesicular skin rash with deposits of IgA Increased risk for malignancy ‐ T‐cell lymphoma of small intestine (rare, be suspicious when you see it) ‐ Other gastrointestinal malignancy, incl. small intestine adenocarcinoma |
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whats the frequency of celiacs
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common, under diagniosed
bimodal dist, common in young 8-12 mo and older 40-60 |
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in gneral are ppl dx with deliacs
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not often like that healthy young woman who was osteopenic and infertile, if you dont think about celiac you wont dx it. its an under dx disorder
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criteria for celiac disease
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1. IgA transglutaminase AB (if you have selective IgA deficit wont see this)
2. sm bowel biopsy will villious atrophy 3. responds to gluten free diet is NOT an appropriate dx marker HLA DQ2 increased susceptibility |
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what is the genetic thing associated with celiac, where is it
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HLA DQ 2/8
chromosome 6 |
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celiac disease is assoicated with with other autoimmune things
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1. dermatitis herpetiformis
2. DM I 2. Selective IgA deficiency (recall WONT have IgA anti transglutaminase AB) 3. autoimmune thyroiditis, alopecia, hepatitis, 4. Sjogrens |
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ok so celiac is HLA class 2 DQ2/8
what does this mena |
the MHC II on dendrites, activated T cells, macro (APC) is bad will present gliaden to CLT and they are activated adn will KILL enterocytes
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when do you see villious atrophy, crypt hyperplasia and CD4 lymphocyte infiltrate
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celiacs
blunted villi, no abs |
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what is teh "iceberg" of celiac disease
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TIP: symptomatic
MID: silent- no sx, but has + serology and villious atrophy LATENT: bottom, no sx, + serology, normal villi ++ serology means tissue tranglutaminase, and HLA DQ2.8 |
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what are the GI sx of celiac
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bulky foul stool
abd pain farts bloat weight loss failure to thrice vomit |
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do you get malams with celiac
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you bet! no volli to abs things
steatorrhea protein/carb deficit weight loss, mm wasting, edema faliure to thrive |
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what vits are malabs in celiac, what does each vit deficit cause
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A- night blingness, rash
E- peripheral neuropathy, ataxia, weakness D- rickets, osteomalacia, osteoperosis K- excess bleeding |
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ok we know vits are malabs in celiac. the following deficit is correlated to what vitamins
1. night blindness, rash 2. rickets, osteoperosis 3. peripheral neuropathy, ataxia, weakness 4. excess bleeding |
A
D E K |
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whats the deal with anemia and celiax
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Fe devicit, hypochromic, microcytic anemia
Fe, folate, B12 can all be deficit |
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besides GI what are sx of celiac
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1. Fe deficit (anemia, fatigue)
2. dont feel well 3. osteoperosis (vit D malabs) 4. recurrent abd pain (gas) 5. infertility 6. short stature/delayed puberty 7 dermatitis herpetiformis |
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where does dermatitis show up
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extensor surface of arms and legs
back of elbow, knee, butt, head, scapula. front of knees **IgA filled lesions. vesicular lesion |
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what things increase mortality in pts with celiac
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1. adenocarcimona of small bowel
1. Enteropathy assiciated t cell lymphoma (uncommon, if you see it do CD wu) 3. jejunal cancer **decreased risk w 5 years on gluten free diet |
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whats the tx for celiax
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avoid ALL wheat, barley, rye,
need STRICT adherence, 1mg of wheat can cause a reaction DELETE THE WHEAT |
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what does it mean, amber waves of pain
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it means amber wheat is involved in celiac disease
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what are some ok grains for ppl with CD
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bean
corn rice potato buckwheat flax quinoa **BE CAREFUL they put gluten in weird things like ketchup |
