[CIS PIDD] [cis-pidd] VS: Splenic embolization in CVID with massive splenomegaly

Wed Mar 29 10:14:13 EDT 2017

Hi Ashish,

easy to agree! This deceased patient had TACI, NFKB1/2 wt (a.o.)

Also have seen non-NRH portal hypertension in CECR1/DADA2.

Also, what is true for patients of Central European origin might not be true in other populations.

Mikko

Oyl Mikko Seppänen
Harvinaissairauksien yksikkö (HAKE)
[cid:]

Head, Rare Disease Center,
Helsinki University Hospital (HUH)
FINLAND

phone +358 947180201
GSM +358 50 4279606
fax +358 9 47174703

CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> kirjoitti 29.3.2017 kello 16.58:

At the expense of stating the obvious, we need to be careful about lumping all forms of CVID and various liver pathologies as one entity. For what it’s worth, we have a patient with CVID associated with NFKB1 haploinsufficiency (4q microdeletion), who developed hepatomegaly with portal hypertension. Liver biopsy showed significant distorted liver architecture but without nodular hyperplasia. He also had several lung nodules and recurrent episodes of ITP and AIHA, for which he was treated repeatedly with steroids. In search for a steroid-sparing agent and based on the success with other forms of CVID, I put him on Abatacept. His liver shrank over the next 6 months and portal hypertension disappeared. It has been 2 years since he has had any autoimmune cytopenias, in complete contrast to the prior years where he had an episode every 2-3 months. His lung nodules are smaller too. We have seen granulomas and splenic varices in patients with ADA2 deficiency-associated CVID, but those could be related to endothelial dysfunction due to ADA-2 deficiency.

Ashish
Ashish Kumar, MD, PhD
Associate Professor of Pediatrics
Director, Langerhans Cell Histiocytosis Center
Director, Pediatric Hematology/Oncology Fellowship Program
Cincinnati Children's
3333 Burnet Avenue, , Cincinnati, OH 45229

<image001.png><https://www.cincinnatichildrens.org/>

From: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
Sent: Wednesday, March 29, 2017 9:01 AM
To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Subject: Re: [cis-pidd] VS: Splenic embolization in CVID with massive splenomegaly

Hi Djuro,

thanks, however we are well aware of this association - as are our liver pathologists - despite search NRH remains very rare in Finnish CVIDs. We have a surplus of some other liver complications, GElogists, pathologists, Timi and me will publish this soon...

ATB

Mikko

Oyl Mikko Seppänen
Harvinaissairauksien yksikkö (HAKE)
[cid:]

Head, Rare Disease Center,
Helsinki University Hospital (HUH)
FINLAND

phone +358 947180201
GSM +358 50 4279606
fax +358 9 47174703

CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> kirjoitti 29.3.2017 kello 15.00:
The patient likely has nodular regenerative hyperplasia
You would need to ask the pathologist to do a reticulin stain to accurate diagnosis it
The link includes an article describing NRH in CVID…they detail their experience with treating these types of cases
http://link.springer.com/article/10.1007%2Fs10875-013-9873-6<https://urldefense.proofpoint.com/v2/url?u=http-3A__link.springer.com_article_10.1007-252Fs10875-2D013-2D9873-2D6&d=DwMGaQ&c=P0c35rBvlN7D8BNx7kSJTg&r=7_Xi_iO9LJTHr-vy99jYOfSlhgVB29ez3xj6iG4Kpn0&m=g8CYjtsn7uQAykoTPbnenIEjPGJcsPXqhdNjb27lscs&s=0V5gbtv-VxpImngirWmBCNTBR48TxeE9Mx8_iYvPxMw&e=>

Djuro Karanovic MD

From: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Reply-To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Date: Wednesday, March 29, 2017 at 7:41 AM
To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Subject: [cis-pidd] VS: Splenic embolization in CVID with massive splenomegaly

Hi

We had a quite similar patient who unfortunately recently died of salmonella sepsis.  Male born 1962,  CVI, GLILD, splenomegaly and portal hypertension (oesophageal varices and caput medusae).  In liver biopsy there was mainly sinusoidal CD8 T cell infiltrate. A clonal TCR population was found in the liver and bone marrow, and LGL lymphocytosis in the blood and BM.

In WES  TACI mutation was found. (Might be worth a relook.)  In 2009 CD19 B cells consisted 7% of lymphocytes, no switched memory B cells.  After 2014 B cells have been 0.   CD4 cells 247 /24%. Low naïve T cells and RTE.
Chronic norovirus and diarrhea. Molluscum contagiosum like lesions in skin.

We were preparing with haematologists to treat the LGL lymphoproliferation.

So it could be worthwhile to look for LGL lymphoproliferation.

Best regards

Timi Martelius MD
Inflammation Centre/Infectious Diseases
Helsinki University Hospital
PO Box 348
00029HUS
Helsinki
Finland

Lähettäjä: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org<https://urldefense.proofpoint.com/v2/url?u=http-3A__nimmsoc.org&d=DwMGaQ&c=P0c35rBvlN7D8BNx7kSJTg&r=7_Xi_iO9LJTHr-vy99jYOfSlhgVB29ez3xj6iG4Kpn0&m=g8CYjtsn7uQAykoTPbnenIEjPGJcsPXqhdNjb27lscs&s=O0kmK2iydMB9PMA9CAfhmazl-tUSSpLOc7mjW0vOil8&e=>]
Lähetetty: 29. maaliskuuta 2017 5:04
Vastaanottaja: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Aihe: [cis-pidd] Splenic embolization in CVID with massive splenomegaly

Dear colleagues,

I am caring for a 50 yo male with 20 years+ history of CVID and massive splenomegaly, portal hypertension with complications of esophageal varices. I was wondering if anyone has experience with debulking spleen through a staged embolization in CVID cases.

Patient now has nearly absent IgGAM, absent vaccine responses, pancytopenia (markedly low ANC, ALC, platelets), GLILD s/p rituximab, massive splenomegaly and ascites. He recently suffered from SBP. There are small granulomas in the liver although do not appear to be significant enough to cause non-cirrhotic portal hypertension. Recent liver biopsy did not show obvious cirrhosis, although there could be sampling error. The imaging was reviewed with radiology and his GI believes that the massive spleen may be drawing significant inflow and resulting significant outflow into the portal vein despite a normal liver. Although they do not treat portal hypertension this way, the GI team thinks he might benefit from debulking of his spleen through a staged embolization so he would still have remaining spleen.

WES has been sent and is pending. We are considering getting a BM biopsy and evaluation for BMT.

I would appreciate any advice regarding treatment of massive splenomegaly resulting in portal hypertension in CVID cases.

Thank you,

Panida

Panida Sriaroon, MD
Associate Professor
Director, Fellowship Program
Medical Director, USF/All Children's Hospital Allergy/Immunology clinic
Beeper 727.825.4379
Office 727.553.3521
E-mail:psriaroo at health.usf.edu<mailto:psriaroo at health.usf.edu>

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