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

[Yeşim Yılmaz Demirdağ]

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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