Help with rare diagnosis of IgG4 Sclerosing Disease??

[Christie1983]

I have recently been diagnosed with a rare autoimmune disorder called IgG4 Sclerosing Disease. I know very little about it and have had multiple surgeries and have seen MANY doctors regarding it. So far none of my doctors have seen anything like it and the only reason I reached this diagnosis was because one of my doctors reached out to a colleague at the MayoClinic in Rochester, MN who has 8 patients with this disease. I just want help understanding it and maybe to reach out and speak to anyone else that has this as well.

[HopefulGirrl]

Hello. For the past six months I have had bilateral submandibular swelling. At times my tongue has gotten a bit thick and the akin under the tongue swollen. It has completely altered my life and it is very difficult to eat, talk and sometimes affects my breathing.

A couple months before this I had problems with both legs feeling very tight, painful and pressurized. It almost felt like if you took a pin you could pop them to relieve the pressure.

Last month both legs broke out into red what I thought were massive hives. The Drs said possibly livedo. They went away in about two hrs. I took photos so that was good.

I have seen over 15 Drs and no diagnosis. ENT's first thought sjogrens then that came back negative. Rheumatologist thinks igg4 and just took some blood for it.

My question is how do you get a definitive diagnosis for igg4? Is it blood or do they need to do some kind of biopsy?

Has anyone else had submandibular or tongue swelling?

I have had over 200 blood tests. I am coming up negative for everything. My ANA is negative and my sed rate is normal. My c3 levels are low. The Drs keep checking C3 and C4.

I am hoping once I get a diagnosis I may start getting some relief.

Any help would be appreciated. Thank you

[suebeedo]

I was diagnosed with AIP a year ago and concurrently had high thyroid antibodies.  I was also experiencing dry mouth and dark urine (temporarily).  After rapidly losing 15 lbs, I was finally diagnosed and treated with high doses of prednisone (5 months) which finally put me in remission (although I still feel get varying sensations in my pancreas).  My father has had similar problems but also has RA and went through a lung cancer scare (it was inflammatory pneumonia) and has had kidney problems periodically.  He also suffers from congestive heart failure.  My research leads me to the conclusion that we both have igG4 systemmic disease (I had high IgG4 levels during my flare; they have normalized for now as have my thyroid antibodies although I do have thyroid nodules).  He remains undiagnosed.  I am anticipating that I may need future medical care but not sure who to see.  A rheumatologist?  I see that Mass General is leading the charge, but I live in DC, not Boston.  I don't want to go from specialist (had GI doc for AIP and endocrinologist for thyroid) to specialist trying to treat each organ but would prefer to have someone look at this systemically.  I live in DC area.  

[mdwildflower]

I'm just now coming across this posting site while looking up information regarding my husband's current flare up.  We too live in the DC area and while Boston is in the Northeast, it's not exactly convenient.   Look up Dr. Sean Whelton at Georgetown University Hospital.  He has expertise in IgG4-RSD.  My husband has been a patient of his since 2015 and Dr. Whelton has a former colleague at Mass General, Dr. Wallace who is working in Dr. Stone's department, and they will collaborate with his care.

[suebeedo]

I also go to georgetown.  I. In remission after f9llowing strict paleo diet. Also went to mass general.  Took long course of high dos3 prednisone 2 years ago but off for a while and drug free.

[TheCraigster]

I was diagnosed with IgG4 just over 6 weeks ago. Lymphnodes in my chest are inflamed, causing all sorts of issues with breathing and blood flow. In addition, it appears Anemia is another side effect of the IgG4.  I've been on Predisone for 5 weeks now, and the mass in my chest as actually gotten larger.  

I'm trying to get in with Dr. Stone, willing to travel from Utah to see him, but I'm being stonewalled by the receptionist saying he's booked to July. If you have any additional contact information for Dr. Stone you could pass on like an email address it would be greatly appreciated.

[michou14]

Hi...my son who's 14 has been diagnosed with the Igg4-RSD on 26/12/12. About 18months ago he started to have problems to eat...the food got stuck in his oesophagus. After trying all kind of treatments, without any improvement, and loosing 18kg (+/-40pounds) a radio showed a "masse" compressing his oesophagus from the outside. Since the 21/11/12 my son has a nasogastric tube to be nourished. Only liquids pass. A biopsie of the mass led to diagnose the disease. He was hospitalised for 1 month. Now my son is at home, he even goes to scool with his nasogastric tube/food. Since 1 month my son is taking 32mg Medrol (cortisone) a day, They hope this treatment it will make the tumor shrink. For the moment there's no improvement. Does somebody know a similar case?

[AdamsMommy419]

Some of your sons symptoms sound very similar to my sons, but not to the extent your son seems to have, my son is 9 At the age of 5 he contracted lyme disease. Lyme disease is a very nasty infection....that many docs are still clueless about!  Lyme disease is caused by a spiral-shaped bacteria (spirochete)  Some strains they are learning are resistant to some antibiotics, so you can be treated, thinking you are getting better, but what actually transpires is the disease goes into silent mode, the disease seems to recycle every 4 weeks, and the spirochete love low oxygen environments ( Like joints )  When the spirochete enters into a joint it is called disseminated Lyme disease, which cause's  swelling, pain and stiffness in the joints. Has your son ever had a ELISA or the WESTERN BLOT  test performed?  If not i would recommend asking his primary to perform it, but realize....30% of positive people will test as a false negative. and the reason is because new studies are showing that the spirochete can make the host ( your son and my son )Immunio- suppressed, which means their bodies are not producing any antibodies.....because their system is compromised and cannot fight it!  I am not sure about what labs have been done on your son, but some tests that came back positive with my son are ESR level of 100 CRP level of 15.3 Moderate titer antinuclear Antibody of 1:160 and 1:320 Speckled pattern. Igg4 with values of 113.3 followed by repeat igg4 5 days after first draw with value of 125.3 .  I have had to fight tooth and nail...meet with doc after doc, to get to this point.  One doc was horrible the initial doc who diagnosed his lyme disease, mistreated him....put him on a 5 day course of antibiotics.....which sent the lyme into silent mode, and it wound up in his joints! Also 10% of people who are infected by Lyme....will go on to develop an Autoimmune condition. The Lyme disease had almost a year to damage his body before finally a doc truly listened to what i was saying, and looked over my logs. I would suggest you keep logs as this doc said my logs really provided him with detailed information and helped him to choose where to start testing for other issues! I kept logs of...Fever, pain , diet, sleep pattern, bathroom habits, fatigue, rash's ( I took pics of the rash ) Its hard for them to dispute facts written in black and white!  I had been keeping these logs in a regular notebook and learn when the cat spilled my coffee all over them that perhaps i needed to discover a new outlet for my logs....which sent me in facebook's direction, I created a private group ...which i titled " Observations"  and i  go there daily and list everything, it also gave me the option to be able to place photos of any rashes into the group as well. I was able to link his dr to the group and he gets to view all my info at his availability, and he is able to leave me feed back or ask questions as well.  I know all to well the frustration , anger, and sadness that goes with all this, I will include the link where i am getting  "Recent Lyme disease information" They have a symptom check list...which you can view to see how many he has.  It is called ILADS.org. Good luck to you and your son....I hope you find answers soon.....Not knowing is always so hard  {{{Hugs to you}}}}

[AdamsMommy419]

My 9 yr old son was diagnosed 12/14/12 with Igg4 related syndrome!  This has been a long drawn out battle, years of high fever, rash, pain, joint swelling, abdominal pain,   hundreds of lab draws...variety of imaging scans.The problem i am finding is that Igg4 is a relatively new diagnosis, with not alot of literature regarding it.  According to the doc who just diagnosed my son....there are no reported cases yet of Igg4 related syndrome in a pediatric patient, because of this fact he has contact Dr John Stone out of Mass General Hospital! Dr Stone is the leading expert in this area, publishing papers to the New England Journal of medicine regarding this illness. Dr Stone has asked to follow my sons case, that he would like to examine him and overlook his labs, possibly order more ( Poor kid is sick of being picked and prodded) that the fact that there is now a pediatric case, he has hopes of learning some valuable information through my son regarding this disorder.  I wish all of you well.