I was diagnosed with a rare autoimmune disease called "Relapsing Polychondritis"

[TrixieStix]

PART 1

Here is a run down of what's been going on with me....

In January of this year I traveled to see Dr. Chheda at Open Medicine Clinic. She had me try taking Ultra Low Dose Naltrexone, but I had a very bad reaction to it after just 1 dose and had to stop taking it immediately. She then had me start taking a small dose of a beta blocker and that too caused bad side effects that I only realized the extent of once I had stopped taking it. Those were the only 2 treatments I tried and given they both failed I declined to try anything else.

As far as the testing that Dr. Chheda ran on me, of all the blood tests (a ton!) the only thing that came back abnormal was my Complement C3 and Complement C4 levels. My C3 was only 30% of normal and my C4 was just a few points below normal range. Dr. Chheda never even mentioned these abnormalities to me, and I am the one who pursued them after reading up on it. I felt it was important that I see a doctor about it. I requested that Dr. Chheda send a referral to an immunologist in my state that I had chosen, and she did so. That is the last interaction I had with Dr. Chheda.

At the beginning of August I saw the immunologist (Dr. A). He ran the following blood tests..

Complement C3: 40 (normal range: 87 - 200) LOW
Complement C4: 13 (normal range: 13 - 50)
Complement CH50: 30.5 (normal range: 41.7 - 95.1) LOW
Complement AH50: 60% (normal range >or= 46%)

Tryptase: 4.2 (normal range: 0.0 - 11)

C1 Esterase Inhibitor (function): 85% (normal range: 68 - 100%)
C1 Esterase Inhibitor (protein level): 19 (normal range: 22 - 43 mg/dL) LOW
* Because my "function" level is normal there is no concern about my low "protein level"

% CD4: 35 % (normal range: 33 - 61%)
Abs CD4 Lymphocyte Cnt: 0.798 10*3/uL (normal range: 0.730 - 2.250 10*3/uL)
% CD8: 41% (normal range: 14 - 35%) HIGH
Abs CD8 Lymphocyte Cnt: 0.941 10*3/uL (normal range: 0.250 - 1.240 10*3/uL)
% CD19+: 8% (normal range: 9 - 23%) LOW
Abs CD19+ Lymphocyte Cnt: 0.192 10*3/uL (normal range: 0.160 - 0.390 10*3/uL)
CD4/CD8 Ratio: 0.85 (normal range: 1.00 - 3.78) LOW
% CD3: 83 % (normal range: 57 - 87%)
Abs CD3+ Lymphocyte Cnt: 1.928 THOU/ul (normal range: 1.040 - 3.400 THOU/ul)
* Even with these T-Cell Subset abnormalities the immunologist still considered my results normal and of no concern.

Erythrocyte Sedimentation Rate: 8 (normal range: 0 - 20 mm/h)
C-Reactive Protein: 0.3 (normal range: 0.0 - 10.0 mg/L)

S. Pneumoniae IGG AB, 23 Serotypes: Normal Response

Given my test results, and history of infections the immunologist felt confident that I do not have a primary immune deficiency although he did say that my low Complement is likely making me slightly more prone to bacterial infections (my medical history shows this) and to make sure to mention that I have "low complement" to doctors in the future and err on side of caution any time it's suspected I may have a bacterial infection.

In terms of my Complement levels we established definitively that it is my Complement C3 and CH50 that are low. Even though my C4 level was slightly below normal range the first time it was tested my C4 levels have been within normal range (at low end of normal) the last 2 times tested and thus my C4 level is considered to be normal. This is important because having both low C3 and C4 points toward someone having low Complement as a result of an immune complex disease (aquired) rather than a congenital cause (genetic).

The Dr. A then referred me to a colleague (Dr. K) of his who is a medical professor at the same hospital (a university teaching hospital) who specializes in both Immune Deficiency and Rheumatology and who is knowledgeable about the Complement System and Complement Deficiencies (these doctors are very hard to find).

 

[TrixieStix]

PART 2

On September 25th I woke up to find my right eye was red, irritated, and painful. These symptoms lasted almost 2 weeks.

Then on October 7th I woke up with pain, redness, and swelling on the right side of the bridge of my nose. It was very painful, and felt as if someone had hit me over the nose with a pipe or something. I had no cold, and no signs of any sinus issues. I was totally baffled as to why my nose would be in such a state as nothing like this had ever happened to me before. I did some searching online and when I searched my nose symptoms the disease "Relapsing Polychondritis" (aka: RP) came up, and once I began to read about the disease I realized that symptoms sounded very much like what I was experiencing and even matched some of my longer standing symptoms as well. One of these symptoms is "red ears". In May I began to experience regular episodes where one of my ears suddenly becomes very red (sparing the lobe) and painful for a few hours. Turns out these episodes of "red ears" is a hallmark symptom of RP (not all with RP experience it but most do at some point in the course of the disease).

A few days later I was back at my primary clinic seeing the same PA, this time about my nose and I mentioned to her that I had read about a disease called "Relapsing Polychondritis" and that I was worried I could have it. She had never heard of the disease (this is not uncommon given it's rarity) so she went off to her office to read up on it, and 10 minutes later she returned to tell me that she agreed that it did indeed seem to match my symptoms and could be a definite possibility. She ordered an MRI of my face to rule out infection or sinus issues. The MRI came back negative for both. She also ran blood tests and both my White Blood Count and Sedimentation Rate came back mildly elevated. These results fit RP. The PA agreed that I should be evaluated further for RP by a rheumatologist.

 

[TrixieStix]

What is Relapsing Polychondritis (RP)?


Relapsing polychondritis (RP) is a rare multisystemic autoimmune disease characterized by recurrent inflammation of cartilaginous and noncartilaginous tissue. The
course of the disease is episodic and progressive affecting various organs in the body rich in proteoglycan, such as the peripheral joints, eyes, heart, blood vessels and kidneys. The otolaryngologic manifestations of RP span the ears, nose, larynx and tracheobronchial tree. The often painful disease can cause joint deformity and be life-threatening if the respiratory tract, heart valves, or blood vessels are affected. Cartilage inflammation (technically known as chondritis) that is relapsing is very characteristic of the disease and is required for the diagnosis of RP. These recurrent episodes of inflammation over the course of the disease may result in breakdown and loss of cartilage.

Though any cartilage in the body may be affected in persons with relapsing polychondritis, in many cases the disease affects several areas while sparing others. The disease may be variable in its signs and symptoms, resulting in a difficult diagnosis which may leads to delayed recognition for several months, years or decades. Joint symptoms are often one of the first signs of the disease with cartilage inflammation initially absent in nearly half the cases.

Relapsing polychondritis is rare. The incidence is estimated to be 0.71 to 3 cases per million. Patients are invariably seen by many specialists before the diagnosis is made. Relapsing polychondritis can affect any age ranging from 5 to 84 years with predominance in the fourth and fifth decade.

The main key to the diagnosis of RP is clinical. The diagnosis is based on the presence of three or more clinical signs, one clinical sign in addition to histological confirmation, or involvement of two or more sites with a favorable response to treatment. There are no reliable markers to the diagnosis of relapsing polychondritis. The yield of laboratory tests, namely elevated white counts, erythrocyte sedimentation rate and anemia, is usually non specific. Studies show that almost one third of patients with RP may have coexistent autoimmune rheumatologic diseases.

In addition to the systemic symptoms of RP, namely fever, malaise and polyarthropathy, patients may suffer from otolaryngologic manifestations. These include auricular and nasal chondritis, in addition to laryngotracheal disease. Symptoms of auricular chondritis such as swelling and redness of the ears are the most common presenting symptoms. Other less common manifestations of RP are vestibular dysfunction and hearing loss.

In view of its potential fatal outcome, involvement of the laryngotracheal complex is the most alarming. Between 10% - 50% of deaths related to RP can be secondary to laryngotracheal involvement. Close to fifty percent of patients with RP have laryngotracheal manifestations of this disease. The symptoms include change in voice quality, respiratory discomfort, stridor, dyspnea, cough, chocking, anterior neck tenderness mainly over the thyroid cartilage and cricoid cartilages, aspiration and difficulty in swallowing. The severity of these symptoms may vary with the extent of the disease and site of laryngeal involvement. Laryngotracheal obstruction may progress to respiratory obstruction and death. Relapsing Polychondritis is a systemic disease with dreadful laryngeal manifestations.

The mainstay of treatment is systemic corticosteroid therapy (Prednisone). Other medications used to control symptoms and, perhaps, progression of the disease, include Methotrexate, Dapsone, Azathioprine, Cyclophosphamide, and Cyclosporine. Methotrexate in conjunction with steroid administration and has been found to significantly decrease corticosteroid requirements while controlling symptoms.

This is what it looks like when one of my ears is inflamed (photo is not of me). Notice how the lobe is spared as there is no cartilage in the lobe.

 

[Diwi9]

@TrixieStix - I hope this potential diagnosis leads you to appropriate treatment. It can explain so many issues you've had.

 

[Gingergrrl]

@TrixieStix - I hope this potential diagnosis leads you to appropriate treatment. It can explain so many issues you've had.

I agree and thank you Trixie for posting about this. I am hoping this leads you to the right treatment path and I really admire your persistence and research. It is truly like having a full-time job (except one that does not pay LOL).

 

[Woolie]

Thanks for posting @TrixieStix. Yours sounds like yet another case that fitted the criteria for MECFS to start with, until other easily observable things started to show.

Reading your story, I noticed that no-one actually offered you this diagnosis - you had to ferret it out for yourself. I think this is a good lesson for all of us. By all means, let's ask our doctors for advice, but let's never put them totally "in charge" of our health. We must take charge. (I learnt this the hard way too, as I've recently obtained another diagnosis largely through my own efforts).

The mainstay of treatment is systemic corticosteroid therapy (Prednisone). Other medications used to control symptoms and, perhaps, progression of the disease, include Methotrexate, Dapsone, Azathioprine, Cyclophosphamide, and Cyclosporine. Methotrexate in conjunction with steroid administration and has been found to significantly decrease corticosteroid requirements while controlling symptoms.

I see that prednisone is the first line treatment, which is a bit of a bummer. I've had some experience of taking pred, and its crappy. Gives you insomnia, makes you scatty and slightly nervous, and puts weight on (it also gave me cataracts, although I think that's uncommon). And in many cases, it just stops working after a while for no apparent reason. Try to get something better if you can. And if they'll only give you pred, keep track of any negative effects.

I'd be interested in hearing more about the relation between your ear/cartilage flares and your ME-like symptoms. Did one precede the other by a long time?

 

[Gingergrrl]

Thanks for posting @TrixieStix. Yours sounds like yet another case that fitted the criteria for MECFS to start with, until other easily observable things started to show.

That was my thought as well.

Reading your story, I noticed that no-one actually offered you this diagnosis - you had to ferret it out for yourself. I think this is a good lesson for all of us. By all means, let's ask our doctors for advice, but let's never put them totally "in charge" of our health. We must take charge. (I learnt this the hard way too, as I've recently obtained another diagnosis largely through my own efforts).

This was also my experience prior to now having two excellent doctors. If you get an abnormal result (whether an auto-antibody or anything else), even if a doctor tells you that it is "normal" or "no big deal", they can be wrong. It may be malicious, or ignorance, or it may be because they have hundreds of patients and a lack of time. If you can do the research and present them with rock solid evidence, it is very helpful (for both the doctor and the insurance- at least in the US) in my opinion and experience. The exception is with Neuros who just prefer that you go away and die.

 

[TrixieStix]

Thanks for posting @TrixieStix. Yours sounds like yet another case that fitted the criteria for MECFS to start with, until other easily observable things started to show.

Yes and while I have been accepting of my ME/CFS diagnosis as it was the best fit (until recently of course) I kept myself open to the possibility that it could ultimately turn out to be something else and not ME/CFS after all. I think there is a danger in people blaming all symptoms on ME/CFS and/or thinking ME/CFS can cause any kind of symptom. With relapsing polychondritis there is no biomarker for it either so if not for my sleuthing I could have just gone on thinking these symptoms were somehow being caused by ME/CFS.

If I do end up diagnosed with relapsing polychondritis it will not be the 1st time I figured out my own difficult diagnosis before doctors did.

 

[TrixieStix]

@Woolie Yes unfortunately the treatment for relapsing polychondritis comes with it's own set of difficulties, and possible problems, but it's a disease that must be adequately controlled given it's progressive, and potentially fatal nature. There are people younger than me with the disease who already require tracheostomy's in order to breathe

I have the symptoms seen in RP that are suggestive of laryngotracheal involvement. I undergo Pulmonary Function Testing next week. I will also need to undergo dynamic CT scans of my throat and chest.

I was prescribed a 6-day pack of Methylprednisolone (Medrol) at the beginning of this month after I told the doctor that my nose was hurting quite a lot again (no swelling though) and there was noticeable improvement in my RP-like symptoms which further supports it being RP. As soon as I started to get toward the end of the 6-day taper my symptoms worsened again. While some RP patients are able to get away with only taking steroids during a flare, it seems most must remain on them long-term/daily to keep the disease at bay. Plus drugs such as Methotrexate as well. I seemed to tolerate the Methylprednisolone well so I'm hoping that bodes well for me if I end up needing to be on it. I'm a bit scared at the prospect of needing to be on steroids and these other serious drugs long-term given the serious side effects that can arise. When I see people in the RP support group online who are younger than me with a tracheostomy due to RP it puts things in perspective.

 

[TrixieStix]

PART 3

I became aware that there is a known rheumatologist who specializes in relapsing polychondritis and RP research (Dr. B) here in my state at the same hospital where my neurologist is. When I called to see if she was accepting new patients I was told she was, but that it would be a 5 month wait. Thus I decided to instead make an appt with one of her colleagues who could see me much sooner.

On October 27th I was seen by the rheumatologist (Dr. Y) about the possible RP. Thankfully I had been taking photos and documenting things such my red ear episodes, my inflamed eye, cheek redness, and of my nose when it was swollen and red. These photos have helped big time in getting doctors to take this seriously. Dr. Y referred me to undergo pulmonary function testing, a chest CT, see an ENT, and also set me up with an appointment with the RP specialist Dr. B, but that appointment is still not until the end of February (takes so long because she only sees patients 1 day a week). My feeling from this appointment was that Dr. Y doesn't feel qualified to make the diagnosis and wants to wait to have Dr. B make the call. She said that if I do have RP than Dr. B would take over my care.

On November 2nd I had the appointment with the immune deficiency/rheumatology specialist/medical professor that the immunologist referred me to. He was really great, and he does believe it's within the realm of possibility that my C3 deficiency could be causing me to experience a Lupus-like illness. It was only less than 2 weeks before this appointment that relapsing polychondritis even came onto the radar so he said that if I end up NOT being diagnosed with relapsing polychondritis than he wants me to try taking Plaquenil to see if it helps with my symptoms. He was also kind enough to recommend and send a referral to a professor/rheumatology colleague of his who he knows has had patients with RP, and who would likely be able to see me much sooner than the RP specialist at the other hospital. I have since made an appt with this doctor (Dr. G) and I see him at the beginning of January.

By the end of February I will have seen 4 rheumatologists in 4 months. I say the more brain power in my corner the better!

On November 13th I saw an ENT (ear, nose & throat doctor) and he turned out to be a total prick. He said he had seen a few people with RP in the past, but that he had never had any RP patients under his regular care. I have no kind words to say about him. He agreed that it does seem likely that I have RP. He then said to come back and see him again when my trachea starts to collapse and I need surgery. WTF? This is not at all how things work with RP patients. RP patients must have an ENT as part of their regular ongoing team of doctors due to the disease affecting the ears, nose, and throat. He was the worst. I will not be seeing him ever again. My husband who was at the appointment with me agrees with me assessment of him.

I undergo the Pulmonary Function testing next week (thankfully they are able to do it locally where I live), and I think I'm going to wait to undergo the CT scans I need until I see Dr. G in January (I don't quite trust Dr. Y to order the correct CT scans as they need to be done in a very specific way and I don't want to get it right the 1st time).

 

[Woolie]

There are people younger than me with the disease who already require tracheostomy's in order to breathe

Oh! It really was none to soon that you found out!

Yes, I have heard of doctors prescribing Methotrexate, which can sort of act as a "steroid-sparing" drug. It might enable you to control the flares with lower doses of steroids and therefore less side effects (which eventually include not only weight gain in weird places, but also bone brittleness). So if I were you, I'd be making some polite enquiries about Methotrexate in the near future.

I'm not sure in what way methylprednisone is different from regular prednisone, and the side effects depend a lot on the dose too. But if it was your first course, and you didn't get insomnia, then that is very good news. The insomnia is one of the worst parts.

 

[TrixieStix]

I'm not sure in what way methylprednisone is different from regular prednisone, and the side effects depend a lot on the dose too. But if it was your first course, and you didn't get insomnia, then that is very good news. The insomnia is one of the worst parts.

Yes I knew ahead of time about the possibility of the steroids causing me insomnia and I was thrilled when I ended up having no problems sleeping while taking it. I hope the same holds true if I have to take a larger dose than what I took.

As for how methylprednisolone (Medrol) differs from prednisone, the former is a more potent.

"Medrol, is a brand name for methylprednisolone, which is actually nothing more than prednisolone with a methyl side chain attached. This methyl side chain increases the activity of the prednisolone by approximately 20%, which lowers the required dose by this same amount. A study of the side effects of each form indicates they are all virtually the same, but different individuals often find they tolerate one better than the other."

 

[Gingergrrl]

On November 13th I saw an ENT (ear, nose & throat doctor) and he turned out to be a total prick. He said he had seen a few people with RP in the past, but that he had never had any RP patients under his regular care. I have no kind words to say about him. He agreed that it does seem likely that I have RP. He then said to come back and see him again when my trachea starts to collapse and I need surgery. WTF? This is not at all how things work with RP patients. RP patients must have an ENT as part of their regular ongoing team of doctors due to the disease affecting the ears, nose, and throat. He was the worst. I will not be seeing him ever again. My husband who was at the appointment with me agrees with me assessment of him.

What a F*cking dick and you don't need this ENT and will find a better one. You are a rock star for figuring this out and searching out the right team of doctors.

Are there any patients with RP who do not ever end up needing to get a trach? One of my auto-antibodies correlates with small cell lung cancer (which is usually fatal) but so far in my case, no cancer has been found. And there are people w/the auto-antibody who never get cancer and reducing the autoantibodies like I am doing w/Rituximab can help prevent this in some cases.

I was just wondering if you may have a version of RP that will not ever need a trach or if catching it early, like you did, can change the outcome if you get on methotrexate quickly? Also, someone will find your posts in the future when they are searching for RP, or for why their ear is red, and you have possibly saved their life.

 

[TrixieStix]

Are there any patients with RP who do not ever end up needing to get a trach?

I was just wondering if you may have a version of RP that will not ever need a trach....

Yes it is not something that happens to all patients with RP. It's estimated that around 50% of RP patients have laryngotracheal involvement and not all of these people end up needing a tracheostomy, but it always remains a risk for anyone with RP and involvement in this area of the body. Many end up needing other kinds of airway surgeries/interventions like stents, etc.

"Upper airway complications develop in up to 55% of patients and may include subglottic stenosis, tracheal wall thickening with subsequent stenosis, and tracheobronchomalacia. Large airway disease can be subtle in the early stages of the disease. Respiratory symptoms such as cough, wheezing, hoarseness, stridor and dyspnea are present in up to 50% of patients. These symptoms should be taken seriously as the severity of symptoms poorly correlates with the extent of the disease and may herald life-threatening collapse of central airway."

 

[Valentijn]

"A few studies that compared ME/CFS with other diseases found that, although PEM was experienced by 19 to 20 percent of subjects with major depressive disorder (Hawk et al., 2006a; Komaroff et al., 1996b) and 52 percent of patients with multiple sclerosis (Komaroff et al., 1996b), it was still much more common in ME/CFS patients than in comparison groups. One study found that 64 percent of patients with major depressive disorder experienced PEM, but the authors did not describe how PEM was assessed (Zhang et al., 2010). As mentioned earlier, these prevalence estimates may vary depending on how PEM was defined and queried for, and thus need to be interpreted with caution”

Probably not PEM, just feeling worse after exertion.

 

[Mij]

But I thought exercise was beneficial for depressive disorders and MS.

 

[TrixieStix]

But I thought exercise was beneficial for depressive disorders and MS.

It seems we might not really know the answer to that question in regards to MS. Here is an excerpt from a 2014 post by a PhD with MS discussing this issue. (I've added a link to the post also).

"Now, I’m not sure I can trust even basic activity like walking not to hurt me more than it helps, at least in the short term. And although I remain in limbo land, plenty of MS patients—and physical therapists—share my equivocal outlook.

So I was pleased to see a recent systematic review of whether exercise is associated with more relapses or adverse events in people with MS. Unfortunately, the review didn’t answer the questions it alleged to address, in part because so little literature exists that looks at carefully controlled exercise and the rates of relapse or adverse events. The review authors concluded that there was no association, but they reported no statistical values to support that conclusion. Furthermore, the exercises and outcome measures in the studies they examined were so variable, there’s no way to draw any defensible conclusions one way or the other."

http://www.msdiscovery.org/news/blogs/12040-ms-patient-phd-exercise-ms-good-or-bad

 

[Valentijn]

So far I've had numerous responses from folks with RP who say they are familiar with the description of PEM

That's not a statement which anyone else can assess, so I'm not sure what the point is. And a lot of quacks also claim that PEM is present in other diseases, but that's because they equate it with DOMS or more generic exercise intolerance.

If you want to support your claim that PEM is present in MS and depression, or anything else, we need links where there's a clear description of how PEM is described. RP does include a form of exercise intolerance, which might even be PEM, but it's pretty much impossible that depression does - millions of people would have it and people would have no problem understanding it when ME patients describe it.

 

[TrixieStix]

I finally got around to creating an imgur account so I can post some photos of my own outward Relapsing Polychondritis symptoms. I'm doing so in case someone in the future stumbles upon this post and says..."Hey that looks like what I have!". There really not very flattering (though I must admit the shade of red my ears achieve is quite impressive)

*Clicking on an image will take you to the larger/full version of the photo.

 

[Mij]

Alan Light "only in CFS do we see all the genes altered"