[CIS PIDD] [cis-pidd] Cutaneus Vasculitis Presenting as Purpura Fulminans in an ALPS-like / SLE / Sarcoid pt

Mon Nov 7 10:50:08 EST 2016

Here's the link again:

https://drive.google.com/drive/folders/0BzdY4kb1eMzvNGxwdzF4aWk0YVE?usp=sharing

Thanks!

On Mon, Nov 7, 2016 at 4:52 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
wrote:

> Dear friends,
> I would appreciate your thoughts and suggestions regarding a patient I saw
> a week and a half ago.
> I apologize but it is going to be a long one.
>
> This is a 29y/o female with 2-3 yrs history of hepatosplenomegaly,
> lymphadenopathy, granoulomatous disease, autoimmune neutropenia  and
> elevated % of DN ab T cells.
>
> The patient underwent an evaluation for bariatric surgery 3 years ago when
> an abdominal US revealed an incidental finding of enlarged spleen. That
> triggered an intensive work up to rule out malignancy / infection /
> autoimmunity. She even underwent exploratory laparoscopy + several bone
> marrow Bx all showed epithelioid histiocytic granulomatous inflammation,
> which at least in the liver were surrounded by lymphocytes. At this point -
> her working diagnosis is extra pulmonary sarcoidosis.
>
> Early in 2015 the pt was admitted several times with neutropenic fevers.
> It was assumed that neutropenia is either drug related or  part of her
> sarcoidosis. She also had mild thrombocytopenia (around 100-130K) and mild
> (Coombs negative) anemia (Hb ~9-10). BM Bx again showed the same
> granulomatous disease, with hypercellular marrow, M:E ratio of >5 and
> increased megakaryocyte count (suggesting peripheral destruction?
> hypersplenism??).
> Later she was found to have anti neutrophilic antibodies, but at that
> point she was started on prednisone 1mg/kg and GCSF.
>
> Was kept on high dose prednisone for several month with very slow tapering
> to 7mg/day. As for the nuetrophils - she still requires GCSF every couple
> of week. She was kept out of the hospital with no fevers or admissions for
> almost a year, but in the last 3 months was again admitted twice for
> neutropenic fever.
>
> Labs - a lot over the years but to summarize, here are the most  important
> ones (I think):
>
>
> 2/2015:
> ANA= >1:640 Dense Fine Speckeled - considered false positive as direct IF
> was negative.
> dsDNA – 51.1H but a second one was negative.
> ANCA – Neg
> RF – Neg
>
> IgG-2040mg/dL H
> IgM – 309mg/dL H
> IgA – 451 H
> IgG Subclasses: IgG1 - 1170*; IgG2 – 155* (L); IgG3 – 42; IgG4 -3
> C3 - 1.49 N
> C4 - 0.08L + 0.09L on repeated testing
>
> Serology for Q fever, Bartonella, Toxo and almost every other pathogen
> were all negative (TB was tested over and over again and was always
> negative) - and I think that any infectious disease would have been
> identified by now, especially with a long high dose steroid treatment.
>
> 8/2016:
> Ds DNA – 12.7 N
> ENA – 2.0 H with mildly elevated anti-Sm.
> ANA is again positive (don't have the exact titer) but this time the
> pattern is homogenous - goes better with SLE.
> IgG 2020mg/dL; IgM 335mg/dL; IgA 489mg/dL
> ACE – 97 - mildly elevated (N<80)
>
> 9/2016 – Lymphocyte subsets:
> Toatl CD3 – 945, CD4 – 344, CD8 – 430, CD4/CD8 ratio 0.8, CD20 – 172,
> *Double Negative CD3+ab+  6%*
>
> HLA-DR – 46%
>
>
> She also has very low HDL (17), but normal vitamin B12 (~400). I do not
> have IL18 or IL10 levels.
>
> On PE - the patient is a bit pale and tachypneic, and the most significant
> finding is huge spleen and liver. I did not find enlarged LN in other
> places, although imaging studies showed enlarged abdominal LN - mostly
> periportal and retroperitoneal.
>
> At this point, and assuming that the patient does not have a
> lymphoproliferative disorder, I decided to call her an ALPS-like - even
> though the granulomatoues disease does not fit well to the overall picture.
> I was considering starting her on either MMF or Rapamycin based on the
> presence of cytopenia (requiring frequent GCSF), huge hepatosplenomegaly
> and elevated DNT cells.
>
> I would appreciate your thought whether it makes sense - would you even
> call her APLS?
>
> But here is the twist...
>
> I first saw the patient a week and a half ago (10-27). 3 days later,
> before we even made any changes to her medical treatment, the patient gets
> her flu shot.
>
> The next day I get a call from the ER - the patient is seen with mild
> purpuric rash. The rash is painful. Her CBC is without any change - plt
> 125K as always, ANC - 1300 as always, Hb - 9.2 as always, PT, PTT is
> normal, no fever. I was afraid that with her law neutrophils she might
> catch something in the hospital (it was already late afternoon) so I sent
> her home with 60mg of prednisone, gave her my phone number and asked her to
> come to clinic the next morning.
> Next morning she shows up with fulminant purpura - very painful, but again
> - her lab is almost without any change. No evidence for DIC what so ever,
> no fever - cultures so far are negative, no evidence for hemolysis on lab
> or blood smear, plt counts are stable, hemoglobin is table, neutrophils are
> stable, no evidence for any other organ involvement other than skin (normal
> LFTs, normal kidney functions and normal urine sed). CRP is 20 (normal
> range <5). Skin biopsy is pending.
> We decided that no matter what the underlying diagnosis is (and the
> options are SLE / sarcoidosis / ALPS-like), right now she has cutaneous
> vasculitis and we started her on 3 days of pulse methylprednisolone
> (1gr/day) which she completed yesterday. Other than her CRP that went down
> from 20 to 5 (N), it is very difficult to see any improvement and pain is a
> dominant issue here.
>
> As the next step, we are considering either rituximab or plasmapheresis,
> mostly because she has very high total antibody levels and we assume that
> the underlying mechanism might be antibody mediated (immune complex? we
> don't have kidney injury or arthritis).
>
> I am a attaching a link to few pictures. My major concern right now is
> that she will develop skin necrosis and secondary sepsis, and that's why I
> don't feel very strong about adding more immunosuppression but would love
> to hear your thoughts and suggestions regarding the underlying diagnosis
> and other treatment option.
>
>
> Update - as I'm writing - preliminary report of the skin biopsy indeed
> suggests vasculitis.
>
>
> Thank you very much!
>
> David Hagin,
>
>
> Tel-Aviv Sourasky Medical Center,
> Tel-Aviv, Israel
>
>
> https://drive.google.com/drive/u/0/mobile/folders/
> 0BzdY4kb1eMzvNGxwdzF4aWk0YVE?gsessionid=JgIfFenSdExWvx9kKrrouJdfihqhi9
> 4-&sort=13&direction=a
>
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