Saturday Case Study—updated

A 28 year old woman consults a plastic surgeon about a scar on her face left over from a childhood accident.  As part of a preoperative workup, she has some blood drawn.  Her pregnancy test is negative, and she is found to be anemic, with a hemoglobin of 8.1 g/dL (normal 12.1-15.1).  She is sent to you for further evaluation.

She comes to the office a little worried.  You take a detailed history. She is of Armenian ancestry. Among the pertinent positives and negatives: she has no family history of anemia.  She has an IUD in place and has very light periods.  She eats a balanced diet which includes a moderate amount of red meat.  She has had no chest pain, no fatigue, and no shortness of breath and plays soccer regularly in a local league.  She has not observed any blood in her stool.  She has had no recent infections that she recalls.  She drinks a moderate amount of alcohol.  She has a history of an anxiety disorder since childhood with occasional panic attacks and episodes of abdominal cramping and migraine.  She has occasional constipation alternating with diarrhea.

I invite you to ask a few questions to round out the history, then I will add the physical exam findings.  I would prefer that you not pipe in with proposed diagnoses until we complete the case.

Update:

In response to the very reasonable questions below:

  • She has no common symptoms of gastric reflux (heart burn, acid brash, etc.)
  • She is not light-headed when standing.
  • She plays soccer twice a week, and has noticed some fatigue near the end of a game.
  • Family history: grandfather with heart disease, grandmother with diabetes, great aunt and cousin with familial Mediterranean fever
  • Her medications include the above-noted IUD, calcium with vitamin D, a multivitamin, and a “energy enhancer” pill that she started a few weeks ago.
  • There have been no hair or skin changes
  • No overt bleeding other than her normal menses
  • She tried eliminating a few foods to prevent migraines, but soon tired of the effort and did not find a connection
  • She has not noted any sensory disturbances

On physical exam:

Heart rate is 92, blood pressure is 110/58, weight is 106 lbs.

She is thin, muscular, and in no distress.

There is mild pallor of her conjunctivae.

Her heart rate is regular and there is a 1/6 systolic murmur at her left sternal border

Lungs are clear

There is no abdominal distention, no organomegaly.

Her labs are in progress, but you ran to the microscope and made this peripheral smear:

Update 2:

Relevant lab results (first round):

Liver function tests (including LDH and bilirubin) normal. Basic metabolic panel normal. MCV 68 (low). Folic acid normal. Vitamin B12 150 (low).  Iron 10, TIBC 454, ferritin 2.

In the way of the boards: her laboratory results are consistent with an iron deficiency anemia.

Next: Differential diagnosis.  Iron-defiency anemia must have a cause.  What studies do you want to see (within my ability to produce them)?

Update 3:

To finish off answering your questions:

  • The energy supplement’s main ingredient is “guaranine”
  • Tissue transglutaminase IgA 122 U/mL (serum IgA levels within normal limits.

Final Update:

The patient has celiac disease, confirmed by a biopsy of her duodenum.  Her anemia and her abdominal discomfort resolved on a gluten-free diet.

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15 Comments

  1. Claire

     /  March 10, 2012

    1. does she feel dizzy when she stands up?
    2. any stomach pain/acidy feeling or burning in stomach or throat?
    3. does she experience a worsening or digestive symptoms, migraine after eating certain foods (i.e. those containing wheat?)

  2. Dianne

     /  March 10, 2012

    Has she noticed any change in her energy level recently or any subtle signs of fatigue such as getting out of breath walking up stairs?
    Does she have any bleeding from any source (i.e. nose bleeds, easy bruising, etc)?
    Does she have any neurologic symptoms such as gait instability, numbness/tingling in feet, or decreased proprioception?
    Does she have any family history of other medical problems, including polycythemia?
    Does she have any changes in her skin or hair, any increase or decrease in weight?

    I have several questions about her CBC, but will save those.

  3. Sarah

     /  March 10, 2012

    Does she take any prescription medications, vitamins or supplements?

  4. david

     /  March 10, 2012

    In this soccer-playing Armenian, I suspect that the red cell indices (MCV, MCHC) and a glance in the microscope at a blood smear would be diagnostic.

  5. Tsu Dho Nimh

     /  March 10, 2012

    Does her family have a history of anemia?

    And did you do a foods list?

  6. Tsu Dho Nimh

     /  March 10, 2012

    Ugly smear … I would do serum iron and iron binding, and hemoglobin electrophoresis.

  7. saffronrose

     /  March 10, 2012

    When you said Armenian, my brain immediately leapt to the question, Does she eat more than a moderate amount of broad beans? Was the blood smear stained with crystal violet?

    Also, is there a deficiency of either α or β globins? Does she have any family members who’ve mentioned similar symptoms? She certainly does not fit the profile for familial Mediterranean fever.

    Don’t know about the migraine source, as there are way too many causes, and not everyone has food triggers. Our family tends to sinus-pressure-triggered migraines when a storm or a cold front is moving in, but we all have seasonal allergies to help set this scenario.

  8. Old Geezer

     /  March 10, 2012

    Beta Thalassemia Minor

  9. Lisa R.

     /  March 10, 2012

    Is her bone structure unusual?

  10. Sarah

     /  March 11, 2012

    I think at this point you can assume possibly some sort of GI issue that’s causing poor absorption of both B12 and iron. I’d start with crohn’s and celiac serologies before moving on to imaging or more invasive testing — so, anti tissue transaminase antibodies, CRP or ESR. none of that is going to be very definitive but it’s a start…

  11. Vicki

     /  March 11, 2012

    Not sure this will connect to the current complaint, but do you have more information about the migraines? How long has she had them? How frequent are they? Has she tried anti-migraine medication in the past (preventives or to treat them when they occur)? If she has tried preventive medication, which one(s), how long ago did she stop taking it?

  12. DLC

     /  March 11, 2012

    too many GI issues to rule out Crohn’s or Celiac, but familial Mediterranean fever can also present with cramps and diarrhea, and can be brought on by stress or strenuous exercise.
    but what’s in that “Energy Pill” ? and what foods did she give up or change because of migraines . . . those headaches could be a symptom of what’s causing the anemia.

  13. Dianne

     /  March 11, 2012

    Uh-oh. Multiple vitamin deficiencies. This could go with gastric bypass, but it’s unlikely that she’s had that given your description, or some other form of poor absorption such as celiac disease. I usually think of celiac disease as going with northern European ancestry but I’m not a gastroenterologist and could have it wrong. Occult blood loss from any number of sources, including colorectal cancer, is not ruled out either. All in all, she should see a gastroenterologist. She should probably have an EGD, colonscopy, and celiac antibody studies such as anti-gliadin abs. (Or whatever the modern equivalent is…I’m not necessarily up to date on GI).

    I’d also suggest stopping the energy pill right away. It’s probably not the main etiology of the problem, but one never knows what’s in these supplements. It might also be worsening her migraines and/or causing stomach irritation. Also, since it’s main ingredient is a caffeine like substance, potentially worsening her migraines. I’m inclined to think that she has been losing (or not absorbing) iron since before she started the energy pill, though, because one doesn’t generally go from a normal hemoglobin to 8 without symptoms unless it goes very, very slowly.

    I’d still like to get a hemoglobin electrophoresis and alpha-thal gene mutation studies, to determine if maybe she has an underlying thalassemia that might make her baseline lower than normal and so her current anemia less severe than it appears. For example, if she has thal minor and a baseline of 10 that might explain how she could be asymptomatic at a hgb of 8. Does she have any previous hgb readings that might provide a baseline?

  14. Dianne

     /  March 11, 2012

    Somehow on the first round, I’d had the impression that she had a baseline hemoglobin that was normal. But looking back through, I don’t see any evidence of this. Do we have any previous CBCs and if so what do they show?

  15. DLC

     /  March 13, 2012

    Celiac was #2 on my list, but I’d have bumped it to #1 on the labs. have to admit I let the history of FMF lead me down the garden path. Also, I’m a bit biased against celiac these days because I’ve encountered too many “self diagnosed” cases of Celiac lately. Gluten-free diet seems to be the new “no High-fructose corn syrup” .

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