[CIS PIDD] [cis-pidd] C4 deficiency, Cryoglobulinemia and Hypogammaglobulinemia

[CIS-PIDD]

Hello,

I yesterday saw a very interesting case of a 31 y/o lady who was admitted
due to severe lower limb skin ulcers, with which she was struggling in the
last 3 months.

She was first presented at the age of 14 with purpura and proteinuria and
was later diagnosed with cryoglobulinemia (HCV negative). She was treated
with pulse methylprednisolone for the acute phase and was kept on
 prednisone + azathioprine/MMF for maintenance.
Over the years she suffered several exacerbations with heavy proteinuria
and responded each time to pulse steroid treatment. Between exacerbation
she is stable on prednisone (12.5mg) +  azathioprine which was later
switched to MMF (3g/day).

Over the years complement levels were checked numerous times and she always
had undetected C4 level. At one point she had some genetic testing which
according to her confirmed C4 deficiency. So I think it makes sense and
should explain the Cryo.


But, she also had her antibody levels checked, and in the last two years
(all that was available for me to see) her IgG levels are always between
200-300mg/dL. I assume this is secondary to prolonged immunosuppression,
together with complement deficiency which might as will impair antibody
production.

Infection wise - she was free of any significant infection until a year and
a half ago. In the last 18 months she had two pneumonias, one of them with
Q fever. No other infections.

I was planning to start her on IVIg, but then spoke with her nephrologist
(she was followed at a different hospital) who told me she had
hypogammaglobulinemia for *10* years now. The reason they didn't start her
on replacement therapy was that she did not have significant infections (I
think that pneumonias should count for something).


I would love to get some input on several issues:

1. Any reason to hold Ig replacement therapy?
2. Would you consider other explanation for the hypogam - other than
prolonged immunosuppression?
3. Do you think that the presence of cryoglobulins could cause false
positive hypogammaglobulinemia (IgGs precipitate together with the cryo?).
4. Severe hypogammaglobulinemia and skin ulcers - she did not improve with
more intense immunosuppression. Would you look for Helicobacter bilis,
similar to what was described in XLA patients?

Thank you very much for your time and thoughts,


David Hagin

Tel-Aviv Medical Center

---
You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://cts.dundee.net/u?id=96396833.5a9591ccd1e327fe6bc4d1543298c482&n=T&l=cis-pidd&o=4029614
or send a blank email to leave-4029614-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20161129/909a9e31/attachment-0001.html>