[CIS PIDD] [cis-pidd] CVID and severe pain

[Seppänen Mikko]

Dear Benjamin,


1)      Is the CVID dg solid? Or is it IgG-hypogamma= if it is You might need to exclude dystrophia myotonica type 1 and 2, mild forms with shorter repeats can be very tricky and ENMG findings very insidious, symptom-onset very late.


2)      I have about 5 CVID-patients that have:
a) chronic fatigue syndrome/ME and
b) fibromyalgia (actually almost all of these have more generalized trigger point tenderness corresponding better to myofascial pain syndrome: are thus FM trigger points tender, or trigger points even more generally?) and
c) Ehlers-Danlos hypermobility type/BJHS (all these 3 diseases group together epidemiologically, often seen together in general population as well).
Hypermobility? Skin elasticity? BJHS/EDS III/EDS IV patients even often have painful, ill-defined peripheral neuropathies (see PubMed).

It has been somewhat surprising for me to find all these together (CVID+FM+BJHS/EDS), but both CVID and a subset of EDS with tenascin X def have susceptibility genes in MHC III. Could this patient have similar problems?
Finding these would help in choosing medication and other therapies?


3)      1 have one CVID-patient with recurrent painful MRI-positive lumbar radiculitis of unknown cause (recurs once in 1-2 years with CRP and SR raise, fever, absolutely mysterious), but the pain pattern in him is very well-defined. POF could suggest an autoimmune origin, but then ENMG (or at least quantitative sensory testing/small fiber biopsy) should be positive and there is often CSF-specific oligoclonality, often slight pleocytosis. If these found, You might try to find autoimmune antibodies from CSF (>20 different described in peripheral neuropathies/radiculopathies),

hope this helps,

mikko

__________________________________________________
Mikko Seppänen, MD, PhD, Docent (Associate professor/Senior Lecturer)
Specialist in Internal Medicine and Infectious Diseases
Senior Consultant, Physician in charge (PIDD)
EM(E)A Expert, PIDDs and Intravenous Immunoglobulin Therapy

Immunodeficiency Unit
Division of Infectious Diseases
Department of Medicine
Helsinki University Central Hospital
Hospital District of Helsinki and Uusimaa
Aurora Hospital, Ward 4-2 and Outpatient Clinic
P.O.Box 348
FI-00029 HUS, Helsinki
FINLAND
phone +358 9 47175923, fax +358 9 47175945
_________________________________________



Lähettäjä: Benjamin Soule [mailto:souleben at hotmail.com]
Lähetetty: 1. elokuuta 2013 6:37
Vastaanottaja: CIS-PIDD
Aihe: [cis-pidd] CVID and severe pain

I have a 46yo female patient with CVID who has been successfully treated from an infection standpoint with IVIG and prophylactic azithromycin.  She had been doing well for a year when she began to develop some vague joint and muscle pains.  Initially the pain resolved after the IVIG infusions for a week or two then slowly came back.  This benefit has decreased over time and now she has little or no benefit from her IVIG infusions.  On several occasions she has been given oral steroids.  These also helped with the pain initially, but are also no longer particularly effective.

She does not have any objective signs of joint inflammation (swelling, erythema, etc) and her ANA and other autoimmune antibodies have been negative.  Creatinine kinase and other markers of myositis have also been normal.  She has difficulty localizing the pain, but physical exam does not reveal specific weakness and she has been evaluated by a neurologist who has been unable to identify a cause for the pain.

Her other history includes treatment for non-hodgkins lymphoma at age 29, and premature ovarian failure.  She was diagnosed with CVID at age 35 and started on IVIG at that time though she had had recurrent infections since childhood.  More recently, at around the time the pain began, she had a slight increase in her creatinine that resolved without intervention.  She also had some GI symptoms (nausea, cramping, vomiting and diarrhea) that resolved when she started a gluten free diet (antibody testing and biopsy negative for celiac).

After 8 months of worsening muscle and joint pain, she has now developed night sweats and headaches with no associated weight loss.  PET/CT was performed that did not revealed any apparent recurrence or new lymphoma.  She also had an episode of fleeting blindness for which she had an emergent temporal artery biopsy that did not reveal temporal arteritis.  She had an episode of chest pain for which she was admitted to the hospital and felt to have pleuritis.  Given these symptoms, we elected to try Rituximab for presumed autoimmune inflammatory neuropathy.  After the first infusion, she had complete resolution of her symptoms for three weeks.  The symptoms slowly returned and she was given a second infusion which was also effective for about three weeks.  A third infusion was less successful with resolution of symptoms for only 2 weeks and no further doses have been given.

I am wondering if anyone has seen anything similar or has any other ideas for evaluation and management.  She is essentially unable to work or take care of her children because of the pain which has continued to progress.

Thank you.


Benjamin Soule, MD
University of Pennsylvania - Allergy and Immunology Section
Children's Hospital of Philadelphia - Allergy and Immunology Department
Philadelphia, PA

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