[CIS PIDD] 42 yo man with DGS and refractory ITP

[Yeşim Yılmaz Demirdağ]

Thanks, I agree with you, we need to be more aggressive to treat this
patient now. However, the patient for some reason is so against the idea of
plasmapheresis, but I think when it was first recommended to the patient
the risks were mentioned more than the benefits. I will tell the heme-onc
team to reconsider this option and talk to him again. He is now on
mycophenylate as recommended by Dr. Fleisher since 6/8/2012 and 60 mg of
prednisone. Platelets are < 2K, he receives daily platelet infusions.
The team is considering referring him to another facility. Where can we
refer this patient?
Thanks again for all your recommendations, I am very grateful that I am in
this group.

Y

In terms of presence of spleen, the patient underwent the nuclear scan for
spleen and liver, there was no evidence of accessory spleen.


On Tue, Jun 12, 2012 at 1:28 PM, Bleesing, Jacob <Jack.Bleesing at cchmc.org>wrote:


>  Yes or no having a spleen or residual spleen seems to me not to be the

> main attraction in this patient. ****

>

> ** **

>

> Cannot imagine getting anywhere without plasmapheresis. Bortezomib is a

> good idea, but likely not sufficient by itself. Would consider a protocol

> used by solid organ transplanters in DSA removal /prevention of acute

> rejection following transplant. – some combination of plasmapheresis

> followed by bortezomib infusions.****

>

> ** **

>

> Long-term, might benefit from a T-cell agent as well, that is if you can

> get him to long-term.****

>

> ** **

>

> Jack****

>

> ** **

>

> ** **

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> ** **

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>

> *From:* pagid-bounces at list.clinimmsoc.org [mailto:

> pagid-bounces at list.clinimmsoc.org] *On Behalf Of *Verbsky, James

> *Sent:* Tuesday, June 12, 2012 1:14 PM

>

> *To:* pagid at list.clinimmsoc.org

> *Subject:* Re: [CIS PIDD] 42 yo man with DGS and refractory ITP****

>

>  ** **

>

> We have thought about this issue a lot.  We preferred RBC pit assays..but

> few places do these.  Our blood center is starting this up again.****

>

> ** **

>

> From what I can tell and the attached paper..Pits and HJB are fairly

> similar.  The one difference is that a cutoff of 1% of pitted RBCs was

> used..but a cutoff of 55/10E6 was used for HJ bodies (0.01%).  Thus you

> have to sample a lot more RBCs to get HJB.  However..they mention an

> interesting cytometric analysis looking at CD71 negative (mature) RBCs and

> then doing PI staining to detect the HJ body.****

>

> ** **

>

> Has anyone used flow to look at splenic function like this?  Might be a

> better way****

>

> ** **

>

> James****

>

> ** **

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> ** **

>

> James W. Verbsky MD/PhD****

>

> Associate Professor of Pediatric,s and Medical Microbiology and Genetics**

> **

>

> Medical College of Wisconsin****

>

> Milwaukee, WI  53211****

>

> jverbsky at mcw.edu****

>

> 414-266-6701 (phone)****

>

> 414-266-6695 (fax)****

>

> ** **

>

> ** **

>

> ** **

>

> *From:* pagid-bounces at list.clinimmsoc.org [mailto:

> pagid-bounces at list.clinimmsoc.org] *On Behalf Of *Church, Joseph

> *Sent:* Wednesday, June 06, 2012 12:20 PM

> *To:* pagid at list.clinimmsoc.org

> *Subject:* Re: [CIS PIDD] 42 yo man with DGS and refractory ITP****

>

> ** **

>

> From my reading of the literature, the presence of H-J bodies is still the

> best, routinely available indicator of functinal asplenia.  JC****

>

> ** **

>

> *From:* pagid-bounces at list.clinimmsoc.org

> [mailto:pagid-bounces at list.clinimmsoc.org] *On Behalf Of *Yesim Yilmaz

> Demirdag

> *Sent:* Wednesday, June 06, 2012 9:58 AM

> *To:* pagid at list.clinimmsoc.org

> *Subject:* Re: [CIS PIDD] 42 yo man with DGS and refractory ITP****

>

> ** **

>

> he does have Howell-Jolly bodies in 6/10 peripheral smears. Do you think

> we don't need to look for any residual spleen?****

>

> thanks****

>

> Y****

>

> ** **

>

> On Wed, Jun 6, 2012 at 12:37 PM, Church, Joseph <JChurch at chla.usc.edu>

> wrote:****

>

> If the patient is asplenic he should have Howell-Jolly bodies on routine

> blood smear.  Joe Church****

>

>  ****

>

> *From:* pagid-bounces at list.clinimmsoc.org [mailto:

> pagid-bounces at list.clinimmsoc.org] *On Behalf Of *Yesim Yilmaz Demirdag

> *Sent:* Wednesday, June 06, 2012 8:45 AM

> *To:* pagid at list.clinimmsoc.org

> *Subject:* Re: [CIS PIDD] 42 yo man with DGS and refractory ITP****

>

>  ****

>

> there is no spleen now, he had them (he had three of them) removed at age

> 9. We are now checking if there is any residual spleen.****

>

> I am not sure about bortezomib in the treatment of ITP, I am checking the

> literature now, could you explain more?****

>

> Y****

>

> On Wed, Jun 6, 2012 at 11:37 AM, <stephan.ehl at uniklinik-freiburg.de>

> wrote:****

>

> Is the spleen enlarged?

> Have you considered bortezomib? SE****

>  ------------------------------

>

> *  Von: *Yeşim Yılmaz Demirdağ [dryesimyilmaz at gmail.com]

> *  Gesendet: *06.06.2012 11:18 AST

> *  An: *pagid at list.clinimmsoc.org

> *  Betreff: *[CIS PIDD] 42 yo man with DGS and refractory ITP****

>

>  ****

>

> Dear all, ****

>

> I was asked to see this patient yesterday. I have added a detailed history

> below. In summary he is a 42 yo caucasian man who was diagnosed with

> DiGeorge syndrome with 22q11.2 deletion at 5 yrs of age (we don't have any

> records of cytogenetic or FISH result). His current problem is severe

> thrombocytopenia resulting in GI bleeding and anemia. He receives platelet

> transfusion almost every day in the past 1 month or so. He has been on high

> dose steroids, IVIG (2gr/kg once a wk), he was on rituximab, Nplate, and

> vincristine between 2009 and 2011.He is being followed by our adult

> heme-onc folks. They asked me if I have any idea on what to do, I told them

> that I will ask to "the group". ****

>

> Apparently the patient does not want to have plasmapheresis which was

> recommended by the heme-onc. ****

>

> also, heme-onc is hesitant to use cytoxan or oral promacta because they

> never used these medications in immune deficient patients before. ****

>

> What would be the optimal approach to this case? Does anyone have any

> idea? I would really appreciate any input.****

>

> Have a nice day!****

>

>  ****

>

> Yesim Demirdag, MD****

>

> West Virginia University, Morgantown, WV****

>

>

>  ****

>

> *Detailed medical history:*****

>

> He was originally diagnosed with ITP at the age of 3, treated with

> steroids and IVIG.  ****

>

> He eventually underwent splenectomy age 9.  *At that time he had 3 spleens

> * *which were all removed.*  ****

>

> But his thrombocytopenia persisted even after splenectomy. ****

>

> Somewhere in his mid teens, between the ages of 15 to 18, his

> thrombocytopenia resolved. ****

>

> He was followed with observation and had no complication until 2009 when

> he was again found to have severe thrombocytopenia.  He was admitted to the

> hospital and subsequently had workup, including a bone marrow biopsy which

> was normal at that time (normal megacaryocytes).  He has undergone

> treatment with immunoglobulin, high-dose steroids, rituximab and Nplate, as

> well as vincristine.  His vincristine was given in 2011 through early

> 2012.  He has received rituximab for several courses and Nplate on several

> different course therapies, including 2009, 2010 and again in 2012.  He has

> received IVIG (2gr/kg) on countless occasions.  However, he recently

> essentially became dependent upon platelet transfusions.  He also has a

> remote history of hemolytic anemia, although he has had no blood

> transfusions until very recently in his course.  Currently, at this time

> his platelets have been less than 10,000 since March 2012.  He has been

> receiving platelets now on an almost continuous basis for the last month or

> so.  He has persistent bleeding, in fact, was recently admitted with GI

> bleeding as well as persistent nose bleeding. He received 2 units of blood

> approximately a week ago and has had evidence of anemia since the fall of

> 2011.  Also, he has had leukocytosis with a white count between 20,000 and

> 30,000 for most of 2011 and 2012 as well (ALC between 2500-9500).  He has

> elevated CD8 counts (7211 cells/ul), CD4 counts 1400 cells/ul.Platelet

> autoantibody was positive (reacts w glycoprotein Ib/IX, IIb/IIa, Ia/IIa).

> CMV DNA is positive (1600 copies/ml).  ****

>

>  ****

>

> He currently has complaints of nose bleeding, bright red blood per rectum,

> fatigue, malaise, generalized bone pain, more severe in his low back and

> knees, present now for approximately 2-3 years, treated with pain

> medication, weight gain of over 100-pounds, fluid retention, swelling in

> his legs, petechiae, easy bruising, headaches, lightheadedness and

> dizziness, episodes of passing out, diarrhea and depression and tearfulness.

> ****

>

>  ****

>

> PAST MEDICAL HISTORY:****

>

> 1.  Chronic ITP as above.****

>

> 2.  History of splenectomy at age 9.****

>

> 3.  Hemolytic anemia at age 5.****

>

> 4.  A report by his mother of being born without a thymus.****

>

> 5.  History of congenital hypoparathyroidism treated by Dr. Chideckel.****

>

> 6.  History of hypocalcemia.****

>

> 7.  History of Hashimoto's thyroiditis in 2008-2009, treatment unclear.***

> *

>

> 8.  History of pneumonia for multiple episodes.****

>

> 9.  History of chronic mastoiditis, status post ear surgery.****

>

> 10. History of possible interstitial lung disease secondary to Nplate in

> 2010, requiring oxygen at that time.****

>

> 11.  History of cataract surgery in 2009 with lens replacements.****

>

> 12.  History per mother of probable DiGeorge syndrome diagnosed at NIH at

> age 5.****

>

> 13.  Diabetes mellitus secondary to steroids.****

>

> 14.  Hypertension.****

>

> 15.  Intermittent elevated creatinine.   ****

>

> 16.  Anxiety disorder.   ****

>

> 17.  History of sleep apnea.****

>

>  ****

>

> CURRENT MEDICATIONS:  ****

>

> 1.  Calcitriol daily.****

>

> 2.  Calcium 3 times daily****

>

> 3.  Chlorhexidine as needed.****

>

> 4.  Nexium 40 mg daily.****

>

> 5.  Folic acid daily.****

>

> 6.  Synthroid 100 mcg daily.****

>

> 7.  Clark's solution as needed.****

>

> 8.  Metoprolol/hydrochlorothiazide 100/25 daily.****

>

> 9.  Oxycodone as needed.****

>

> 10.  MiraLax as needed.****

>

> 11.  Prednisone 120 mg daily.  Currently I have asked him to increase it

> down to 60 mg daily.****

>

> 14:  Topamax 25 mg twice daily****

>

>  ****

>

>

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