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

TrixieStix said:
@Jonathan Edwards as always I very much appreciate your scientific analysis and input. Same also goes to everyone else who has commented & "liked" my posts :)



I found this information online that says it is "current" & "updated" and my rheumy is one of the listed editors. I'm curious if after reading this you would revise any of your comments?

"The etiology of relapsing polychondritis (RP) is unknown. Although few clues are evident, there appears to be a genetic susceptibility, an overlap with other disorders associated with immunologic abnormalities, and the potential for multiple inciting events including chemical insults. This hypothesis is supported by a series of observations which imply that RP is not a primary disease but a syndrome associated with multiple precipitating factors that appear in a genetically susceptible subject. The paraneoplastic myelodysplastic relationship suggests a potential pathophysiologic role for clonally expressed lymphoid stem cells in which functional T cell defects induce both autoimmunity and uncontrolled neoplastic hematopoietic clonal proliferation. However, a report of abrupt onset after recreational drug abuse implies that a direct biochemical insult also can induce the disease."

https://www.uptodate.com/contents/e...lychondritis?topicRef=5587&source=see_link#H1

And here is a link to the entire "overview" menu for the article...

https://www.uptodate.com/contents/e...polychondritis?topicRef=5587&source=see_link#

In regards to Plaquenil, I know that many other people with RP are also taking it, and I believe this may be due to the fact that with RP often comes other autoimmune issues. In my case biopsies show that I have severe Small Fiber Neuropathy (so much so that I have developed significant muscle weakness in my left leg that affects my ability to walk uphill and stairs). It is my understanding that SFN is not a symptom thought to be caused by RP. I also have significant sicca symptoms (decreased tear production & dry mouth) so I seem to also be experiencing Sjogren's-like symptoms (I am seronegative & not had a lip biopsy). It's my hope that if this is the case that the Plaquenil will perhaps slow down or stop further progression of the SFN. I will try and remember to ask my rheumy the question "why I am taking Plaquenil?" at my next appointment.

I also have the whole genetic Complement deficiency thing as well and not sure how or if it may also be adding to my issues?

As for the sun sensitivity, it actually started last summer (it's when I first noticed it) which is before I was on any of these recent medications. Last summer I began to notice that my fatigue, joint pain, and malaise would worsen in the hours/days after any considerable time in the sun. And my skin also bega, to get red, blotchy and painful like I had gotten a sun burn with even brief exposures to the sun.

Since I posted my update the other day I've had my most aignificant "flare" of my RP symptoms since beginning the Leflunomide. It only lasted a day, but it makes me worried that perhaps the Leflunomide isn't going to do the trick. However it's only been 27 days since I began taking 20mg daily. Fingers crossed!
Click to expand...

Hi @TrixieStix, Plaquenil is a great tool in rheumatology in decreasing inflammation. It does not work right away, so you need to wait a good 6months to judge whether it is helping you. I took it for 10 years following an episode of small joint pain (fingers and toes) I was not formally diagnosed with any rheumatologic disease, but the fingers and toes pain was debilitating. With the addition of Plaquenil I was able to taper down the other anti-inflammatories I was on. Stopping Plaquenil made the joint pain to come back.

With Plaquenil you need to have visual field exams on a regular basis as it can be toxic on the eyes.

Best wishes.
 
more from the same online resource...

"Relapsing polychondritis (RP) is characterized by widespread, potentially destructive, inflammatory, and degenerative lesions. Ear cartilage is classically affected, but RP may involve cartilage and biochemically and immunologically related connective tissue structures throughout the body. Other anatomic areas and organs that may be involved include the eyes, nose, airways, heart, vascular system, skin, joints, kidney, and nervous system."

"Up to one-third of patients with relapsing polychondritis (RP) present with a recognizable form of systemic vasculitis, a connective tissue disease or other autoimmune disorder, or a malignant or premalignant condition. The intercurrent disease may precede RP by months to years, occur after the diagnosis of RP, or present simultaneously with RP."

"Vascular disease is presumed to be the cause of many of the primary manifestations of RP. Vasculitis is proven histologically in approximately 14 to 25 percent of patients with RP. Features of vasculitis may appear at any stage of the disease, either simultaneous with or independent of other manifestations, and may be indolent or fulminant. Among patients with RP, vasculitis may be an integral part of the primary disease process or may exist in a concurrent pathologically distinct form. Virtually all of the major types of vasculitis have been reported in association with RP."

"Whether the association of RP with other diseases is coincidental or representative of a shared genetic predisposition to different disorders is not known. One study that examined the immunogenetics of RP found that human leukocyte antigen (HLA)-DR4 was significantly more common in patients with RP than in healthy controls (60 versus 26 percent) [68]. This parallels the established observation of DR4 positivity in RA. However, no predominance of any of the DRB1*04 subtype alleles was seen in the polychondritis group in contrast to the clear association of DRB1*0401 and DRB1*0404 in patients with RA."
 
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Hi @TrixieStix,
I only just saw these posts. To be honest, all that stuff suggests to me that I should not change my view much - nobody knows what's going on. The mention of antibodies and T cells is the sort of mention that scientists make when they are hoping they found something interesting but haven't actually sorted anything clear out. The description is phrased in the standard 'genes and environment' story that isn't sophisticated enough to get very far. The biggest causal factor in autoimmunity is neither genes nor environment, it is probably a programmed random component.

There is something very specific about the pathology of RP and that must have a very specific explanation. I doubt anyone has got close to it yet. But physicians who see lots of cases are the best people to advise on practical grounds.
 
@Jonathan Edwards I appreciate you giving me your take on it. It's mostly all gooblygock to me, and what you've said about these "findings" matches up with the overall consensus that the etiology of RP remains unknown. My gut feeling was that the listed "findings" don't really add up to much. Perhaps in my remaining lifetime that will change. I feel very lucky that my rheumatologist is one of the few in the world who sees a lot of RP patients. I'm in the best hands I can be in. Thanks again.
 
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The 7 month mark has come and gone. (the end of Sept marked 7 months since beginning treatment for RP)

Quite a few new developments since I last posted at the 4 month mark.

After 2 months of taking the 20mg of Leflunomide daily I did notice a definite improvement in my fatigue levels, but no improvement in my joint pain (RP causes non-erosive arthritis), and I still continue to experience cartilage symptoms in my ears, nose, right eye, and trachea.

I also continue to take 10mg Prednisone daily and 400mg Plaquenil daily.

In mid-September I came down with a cold, and that has caused my fatigue level to increase a bit and even now that I am over the cold I am still not back to where I was pre-cold.

In other news I have just been diagnosed with "Non-Atherosclerotic Peripheral Artery Disease" (not caused by plaque buildup). 90% of those with Peripheral Artery Disease (PAD) have it due to plaque buildup. I am one of the 10% who have it due to other causes. In my case my doctors now believe the PAD means I likely also have Systemic Vasculitis in addition to Relapsing Polychondritis. Up to 30% of those with RP also develop vasculitis. Like RP, vasculitis is also an autoimmune disease.

For 4 years or so I have experienced significant muscle weakness and pain in my left leg with walking (gets really bad going up inclines and stairs). I had been chalking it up to being a side effect of my Small Fiber Neuropathy, but my neurologist said SFN would not cause such symptoms. He referred me for an Ankle-Brachial Index Test and appointment with a vascular doctor/surgeon.

Sure enough the ankle-brachial index test showed "intermittent claudication" in my left leg. After walking on an inclined treadmill for less than 2 minutes the blood pressure in my left leg decreased sharply, and it took 11 minutes for it to normalize. The vascular doctor believes that I have a blockage/stenosis in my left common iliac artery (it's in the abdomen).

So in one day I found out I have both PAD and probably systemic vasculitis too. Not a good day.

In light of the new information
doctors have just had me undergo an echocardiogram (still waiting
for the results) and soon I am undergoing a chest CT and a CT angiogram. My doctor has also said that she may start me on a drug called Cellcept. I see that this drug like Rituximab can cause PML. I know it's a tiny risk, but still a little scary. Perhaps I can get my doctor to test me for the JC virus and if I'm negative I can rest a little easier.
 
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Thanks for taking the time to report back to us, @TrixieStix. Its really helpful, because if even one of us recognises something in your description that matches our own, its something we could follow up.

I'm sorry though, that the problems seem to be just piling on for you. The whole thing is just so unfair. I imagine that the abdominal issues must be particularly unpleasant.

What's PML?
 
@Woolie Thankfully the presumed blockage/stenosis in the artery does not affect my stomach at all. The actual artery damage causes me no symptoms itself, the symptoms I feel are instead those caused by the reduced blood flow to my left leg that it is causing (intermittent claudication).

The below excerpt explains how and why intermittent claudication causes pain....

"The blockage or narrowing in the arteries means that the blood flow is reduced. At rest there is enough oxygen in the blood reaching the muscles to prevent any symptoms. When walking the calf muscles need more oxygen, but because the blood flow is restricted the muscles cannot obtain enough oxygen from the blood and cramp occurs. This is made better by resting for a few minutes. If greater demands are made on the muscles, such as walking uphill, the pain comes on more quickly. Many patients also notice that if they are carrying heavy bags the pain comes on sooner because the leg muscles are having to work harder. Walking in bare feet or very flat shoes also tends to make the symptoms worse."

Also for reference.....

"More than 90% of patients presenting with symptoms or signs suggestive of peripheral artery disease (PAD) have atherosclerotic vascular disease. The remainder have a varied group of pathologies that can be broadly categorized as secondary to intrinsic arterial mural abnormalities, inflammatory vasculitides, deranged coagulation, abnormal internal and external forces, and impaired venous drainage. The management of these conditions often differs from that of atherosclerotic disease and involves management of the underlying cause as well as treatment of the anatomical arterial lesion."
 
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Ow. I feel like i belong here too. :(

I had intemittent swollen nose tip since early childhood, i always felt like i have 2 versions of face based on my nose shape that got distubed occassionally. But it never hurted until 2016.

Now seems to be flaring after IVIG (or after skipping next dose because it started around 35+ day).
Rheumatologist said this might polychondritis, but i didnt know it can cause so many other thngs like heart or trachea thing (i feel even trachea probl tonight). And my absolutely asymptomatic Sjogrens became suddenly symptomatic 2 weeks ago


I so wished i dont have ME but some "other" disease, now i think i was nuts.

my complements etc, are all normal. this photo maybbe shows a bit too much contrast in color, but the redness is real and swelling

- i dont even have HLA DR4 genes, but in my family aunt has Sjogrens/lupus-like and niece has dermatomyositis.

My parotid glands are also suddenly swollen


Photo:
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i have hla dr4, but dont know sjoegrens

atm my nose looks similar @Pibee
i had a sunburn on the nose in november. its still there.

had some "sunburn" on the chest for perhaps 15 years...
otherwise, sunburns may turn into freckled skin.
 
roller* said:
i have hla dr4, but dont know sjoegrens

atm my nose looks similar @Pibee
i had a sunburn on the nose in november. its still there.

had some "sunburn" on the chest for perhaps 15 years...
otherwise, sunburns may turn into freckled skin.
Click to expand...


for me this appeared (red) last night, lasted few hours and today back to my usual (still swollen nose tip but not noticable unless someone really knows me well) since 2016 constantly, after "herx" on bactrim.

bbut i feel in trachea and chest "new" thing, hope it's not related.
today: Unbelievable how fast it comes and goes.

WS2Qaol

WS2Qaol

WS2Qaol
 
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A really weird thing happened to me a few months ago. The outer cartilage of one of my ears started oozing clear fluid which ran in a stream down the outer fold for about four days. My ear was very red and swollen. My ear lobe was not affected.

About two days after it started, the other ear did the same thing, though not quite as badly. For a while both very red ears stuck out like Dumbo. Then it all went away and it hasn't happened again.

I don't have a sore nose or throat although I have bi-lateral erosion of the cartilage in most of my joints. I do have a very painful sternum area, and between my ribs all over. And that's it.

I happened to have an appointment with my doctor a few weeks later so I told her about it. She hadn't heard of relapsing polychondritis and I certainly didn't suggest I have it as I don't meet enough criteria. If it happens again I have to go immediately to the surgery and have photos taken.
 
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