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

[Yeşim Yılmaz Demirdağ]

yes, thanks Kate,

total T cell count, and CD8 counts are elevated (9000 and 7411), CD4 is
normal (1400).
I don't have a proliferation assay yet, we ordered it today, but it won't
be able to be sent until Monday.
Y



On Wed, Jun 6, 2012 at 11:26 AM, Sullivan, Kathleen <
sullivak at mail.med.upenn.edu> wrote:


> Tough one.  Rituximab was ineffective?

> I would want to know the T cell counts and proliferation before thinking

> about Cytoxan.  That is a big step.

>

>  On Jun 6, 2012, at 11:18 AM, Yeşim Yılmaz Demirdağ wrote:

>

>  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

>

>

>  Kate Sullivan, MD PhD

> Professor of Pediatrics

> ARC 1216 Immunology CHOP

> 3615 Civic Center Blvd.

> Philadelphia, PA 19104

> (p) 215-590-1697

> (f) 267-426-0363

>

>

>

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