[CIS PIDD] 42 yo man with DGS and refractory ITP
Yeşim Yılmaz Demirdağ
dryesimyilmaz at gmail.com
Wed Jun 6 11:45:03 EDT 2012
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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