21 year old female with borderline polycythemia & elevated iron - next step?

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Medic_90x

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21 y/o Female, caucasian, otherwise healthy. Not on any meds. No supplements.

Abnormal labs
Iron - 162
TIBC - 455
Hg - 15.8, RBC 5.5, Hct 49 (basically all a bit above normal range - but meets threshold in a female of this age)



Transferrin 318, Iron sat 36%, Ferritin 59. TSAT is like 35%.

This was only checked because she's been told in the past that she has elevated iron (no records available) twice apparently.

Liver panel was normal, albumin at 5.2. BMP normal (Cr 1.1). She is also asymptomatic.


HFE testing order. EPO ordered. Anything else to consider? JAK2 mutation? I tend to look at this iron panel as underinflated for a 21 y/o female.
She does have b/l enlarged tonsils 2/2 viral infection couple months ago. But is asymptomatic and has no OSA symptoms. BP is normal etc.

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Does not appear like iron overload as her ferritin and TSAT are normal. Hct is borderline normal for female. I would repeat studies in 3 to 6 months.
 
Smoker? Athlete?
Echo to r/o phtn
Sono to r/o HSM unless you feel 100% confident in your exam and her body habitus
Blood smear?. Mcv? Platelets? WBC count?
 
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Does not appear like iron overload as her ferritin and TSAT are normal. Hct is borderline normal for female. I would repeat studies in 3 to 6 months.
These labs are basically repeat studies since this has been found twice before per her history.
 
Smoker? Athlete?
Echo to r/o phtn
Sono to r/o HSM unless you feel 100% confident in your exam and her body habitus
Blood smear?. Mcv? Platelets? WBC count?

Non smoker. Not a athlete.
MCV 89. Pl 360. WBC 10.

Blood smear not done, can obtain.
The U/S to rule out spleen pathology?
 
consult heme

drink coffee
If HFE mutation neg, I'll marrow her for the RVUs and d/c from clinic when nml.

If HFE mutation pos, I'll send her to the Red Cross for public service phlebotomy and d/c from clinic. If I keep her in our clinic for phlebotomy it'll just get poured down the sink AND I have to see her in follow up which is a waste of my time.
 
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Non smoker. Not a athlete.
MCV 89. Pl 360. WBC 10.

Blood smear not done, can obtain.
The U/S to rule out spleen pathology?

Correct. Unless you feel confident in your exam and there is no splenomegaly. WBC 10 a smear would be helpful-if totally normal and US with no splenomegaly would be re-assuring nothing wrong with following for 3-6 mo. Some docs including many I work with at large academic hospital specializing in benign heme, thrombosis or MPNs would just get JAK2 (all exons).
 
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If HFE mutation neg, I'll marrow her for the RVUs and d/c from clinic when nml.

If HFE mutation pos, I'll send her to the Red Cross for public service phlebotomy and d/c from clinic. If I keep her in our clinic for phlebotomy it'll just get poured down the sink AND I have to see her in follow up which is a waste of my time.

Yeah but now it’s YOUR time

I drink more coffee
 
21 y/o Female, caucasian, otherwise healthy. Not on any meds. No supplements.

Abnormal labs
Iron - 162
TIBC - 455
Hg - 15.8, RBC 5.5, Hct 49 (basically all a bit above normal range - but meets threshold in a female of this age)



Transferrin 318, Iron sat 36%, Ferritin 59. TSAT is like 35%.

This was only checked because she's been told in the past that she has elevated iron (no records available) twice apparently.

Liver panel was normal, albumin at 5.2. BMP normal (Cr 1.1). She is also asymptomatic.


HFE testing order. EPO ordered. Anything else to consider? JAK2 mutation? I tend to look at this iron panel as underinflated for a 21 y/o female.
She does have b/l enlarged tonsils 2/2 viral infection couple months ago. But is asymptomatic and has no OSA symptoms. BP is normal etc.

Not a hematologist, but from my perspective she needs either fewer lab draws so we stop checking this more than yearly or more lab draws so we phlebotomize the extra off.

Reasons I do hospital medicine: This ****.
 
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Not a hematologist, but from my perspective she needs either fewer lab draws so we stop checking this more than yearly or more lab draws so we phlebotomize the extra off.

Reasons I do hospital medicine: This ****.
If HFE mutation neg, I'll marrow her for the RVUs and d/c from clinic when nml.

If HFE mutation pos, I'll send her to the Red Cross for public service phlebotomy and d/c from clinic. If I keep her in our clinic for phlebotomy it'll just get poured down the sink AND I have to see her in follow up which is a waste of my time.

Any indication for a JAK2 mutation check?
 
Any indication for a JAK2 mutation check?
How much do you hate your local hematologists? Or yourself if you’re the local hematologist?

I’m with @tantacles on this one. She either needs no more lab draws or twice weekly CBCs for the next 2 or 3 years.
 
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How much do you hate your local hematologists? Or yourself if you’re the local hematologist?

I’m with @tantacles on this one. She either needs no more lab draws or twice weekly CBCs for the next 2 or 3 years.

I'm family med. And why the lack of interest in working it up? Young females are generally on the lower end with their hemoglobin.
 
How much do you hate your local hematologists? Or yourself if you’re the local hematologist?

I’m with @tantacles on this one. She either needs no more lab draws or twice weekly CBCs for the next 2 or 3 years.

Life is good when hem/onc agrees with you. I'VE STILL GOT IT, KIDS!

Unfortunately, "I've still got it" doesn't inspire confidence when you've just finished residency.

<3
 
I'm family med. And why the lack of interest in working it up? Young females are generally on the lower end with their hemoglobin.

And there is natural variance. In an asymptomatic patient who now has had this checked multiple times, I can't say that she has proven that she falls into the category of "just variance", but I can also say that the risk of a hematologic malignancy in a 21 year old female (assuming most of the other stuff would have shown up by now) with a borderline high hemoglobin and nothing else too special on her CBC approaches zero.

Let me tell you a story: I got a consult from the peds psych floor (I'm med-peds trained) because a patient had an INR of 1.2. The patient was asymptomatic. Do you know what she ended up having? Hemophilia A.

Except wait. No she didn't. I didn't check for hemophilia A. Because I used my medium-sized (@gutonc 's is much bigger) brain to figure out a pre-test probability in my head based on all the things learned in medical school and residency and quickly realized based on my knowledge of statistics that I shouldn't be getting tests in patients with extremely low pre-test probability unless I am looking for a very specific entity and the specificity is extremely high. A CBC is an extremely sensitive test for a great many hematologic disorders, but an isolated and mildly high hemoglobin is specific for almost literally no disorders. And if your pre-test probability is low, your rate of false positives for any given disorder is high.

Your patient (and I guess mine too) is the poster child for why positive predictive value is often more meaningful than sensitivity.

Oh, also, @gutonc agreed with me so neener neener neener.

But for serious, in these borderline cases, sending them to a specialist if you're really unsure is actually often the best answer. Totally boring consult for your specialist, but assuming that you have a good specialist to refer them to, they will be able to use the clinical judgment they gained during fellowship to rule out low probability disorders without doing extensive testing.
 
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And there is natural variance. In an asymptomatic patient who now has had this checked multiple times, I can't say that she has proven that she falls into the category of "just variance", but I can also say that the risk of a hematologic malignancy in a 21 year old female (assuming most of the other stuff would have shown up by now) with a borderline high hemoglobin and nothing else too special on her CBC approaches zero.

Let me tell you a story: I got a consult from the peds psych floor (I'm med-peds trained) because a patient had an INR of 1.2. The patient was asymptomatic. Do you know what she ended up having? Hemophilia A.

Except wait. No she didn't. I didn't check for hemophilia A. Because I used my medium-sized (@gutonc 's is much bigger) brain to figure out a pre-test probability in my head based on all the things learned in medical school and residency and quickly realized based on my knowledge of statistics that I shouldn't be getting tests in patients with extremely low pre-test probability unless I am looking for a very specific entity and the specificity is extremely high. A CBC is an extremely sensitive test for a great many hematologic disorders, but an isolated and mildly high hemoglobin is specific for almost literally no disorders. And if your pre-test probability is low, your rate of false positives for any given disorder is high.

Your patient (and I guess mine too) is the poster child for why positive predictive value is often more meaningful than sensitivity.

Oh, also, @gutonc agreed with me so neener neener neener.

But for serious, in these borderline cases, sending them to a specialist if you're really unsure is actually often the best answer. Totally boring consult for your specialist, but assuming that you have a good specialist to refer them to, they will be able to use the clinical judgment they gained during fellowship to rule out low probability disorders without doing extensive testing.
This is a great post. Learning to ignore barely abnormal values is a great skill to possess.
 
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I would re-interpret the original case as: Young woman without iron overload with hemoglobin/hematocrit off of the normal range by the likely variance of the measuring device. Treatment is reassuring words for the patient and mindfulness exercises for the treating physician.

I will offer a mantra I adopted in residency and often apply to the possibility of running tests and ordering procedures: "Just because I can doesn't mean I should"
 
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But is asymptomatic and has no OSA symptoms. BP is normal etc.

this is like 60% of my job, patient comes in with a big nothing burger complaint, troponin is drawn for no reason, comes back minimally elevated at 0.06 and we are stuck holding the bag.

as tantacles said, stop checking **** when it's not indicated. the one case of polycythemia vera is going to be balanced by the 1000 unnecessary bone marrows you'll poke. assuming most lab tests are normally distributed among asymptomatic patients, some people will always fall in the 99th percentile for no reason other than that's the way god (or zeus, or osiris, or vishnu etc) made them.
 
this is like 60% of my job, patient comes in with a big nothing burger complaint, troponin is drawn for no reason, comes back minimally elevated at 0.06 and we are stuck holding the bag.

as tantacles said, stop checking **** when it's not indicated. the one case of polycythemia vera is going to be balanced by the 1000 unnecessary bone marrows you'll poke. assuming most lab tests are normally distributed among asymptomatic patients, some people will always fall in the 99th percentile for no reason other than that's the way god (or zeus, or osiris, or vishnu etc) made them.

Yeah, let's stick with Vishnu.
 
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