Chilblain lupus erthematosus : I’m 70 in the USA... - LUPUS UK

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Chilblain lupus erthematosus

phirestar profile image

I’m 70 in the USA. Chilblain LE dx from toe biopsy. I’ve googled and apparently it’s rare. The biopsy was done to rule out microthrombi bc I’m positive for APS antibodies(no symptoms) labs done at 68/69. For a couple of years raynaulds and acrocyanosis were tossed around but I don’t profile for either. Some toes/fingers just turn blue. The first time I turned blue was an immediate reaction to omnipaque 300 (cat scan dye) I also was freezing. There were other reactions but these seem to be tied to my sporadic blue episodes. Rhuemy #2 under new medicare plan ordered the biopsy. I’m also scheduled for an ultra sound of legs, feet and toes. So far, I just turn blue, they don’t really hurt or blister. DLE by biopsy at 68 and has been in remission since initial treatment. Rhuemy is thinking about a calcium channel blocker but I have a history of reacting to excipients in meds (3thyroid and 4 statins). To date, I have continually tested negative for SLE. All my research seems to suggest that these dxs at my age with no prior symptoms is unusual. 2 seem to be listed as rare.

1 is this unusual?

2 are there topicals that are vasodilators?

Any thought would be appreciated.

Thx

21 Replies

You can have APS without being positive for Lupus. About 5% of people who have APS have Lupus but as you say your profile for it is unusual anyway. Raynaulds and chilblains are common manifestations of APS too. You say you turn blue but can it be like a Lacey or mottled rash which could be something called Livedo Reticularis which again is common with APS. Unfortunately you seem to be one of those (or your Doctor) who has confused you with the Lupus Anticoagulant name. It is a clotting test and one of the screening tests for APS and nothing to do with the disease LUPUS itself. You also seem to be one of those who are quite likely to react or be allergic to things. MCAS can sometimes fit with APS people. Baby aspirin maybe all that you require for the APS providing you can tolerate it with your sensitivities in order to prevent future clotting.

You need a Dr probably a Heamatologist who is a specialist in treating APS as many Rheumatologists are not.

phirestar profile image
phirestar in reply to Star13

It’s not livedo reticularis, the biopsy came back leaning toward chilblain lupus erthematosus which is apparently different from perino (a more common form) and this form is rare. I posted in this group bc when I did a search for chilblain le, nothing came up. I don’t think doc is confused as she’s the first to verbally acknowledge my being triple positive without symptoms for APS and at the time the initial lab was done I was positive for the DRVVT and negative for PPTla. This surprised all my docs at the time I think in part to no symptoms, age and that mix. Under another Medicare plan I had referrals to 2 Hemetoligists. First didn’t know anything and wasn’t aware of the labs needed. Hemetoligist #2 wanted a second opinion so did a referral to UCSF (medical teaching/research hospital part of the university of California system) and after several renewed referrals nothing materialized so I axed it after 10 months. I think he wanted this bc in retrospect, some of my reactions to the first two thyroid meds could be associated w APS. Until the reactions to the thyroid meds at 65, I had a completely unremarkable medical history. When this was going on I jumped down a huge research rabbit hole and all reactions were t,b, and mast cell activated. I was on LDA during the thyroid med reactions -an age thing- but stopped bc my thighs looked like someone had taken a baseball bat to them. About 68, a new doc different plan wanted me to try aspirin again - age thing (no APS labs at the time) and I’d been on hypoallergenic thyroid meds for almost 2 years and while I was apprehensive, I did fine but I found one that only had corn starch as a filler. This rhuemy is wanting to discuss a calcium channel blocker at next visit in April. I don’t have a BP problem but I’ve read many don’t react well to these. I’m looking for a vasodilator that is topical instead of a pill. I’ve also been mulling over the idea of trying to see an immunologist bc all seems to be related to immune system. I was dx hypo at 65 and 8 months later hashi. I have some pretty wonky thyroid labs but no symptoms which has also surprised my docs. I did my genetics at 67 bc I thought that it might provide more info about my thyroid med reactions bc I was asymptomatic and without symptoms had no Avenue to pursue for labs. The long/short so far seems to be I’m collecting AID (only one in my family) that are unusual fir my age as well as rare! I’ve tested negative continually for SLE, cryoglobulins, and other associated diseases. I’ve had positive ANAs but the cascade is negative, RA factor is negative, one had a speckled pattern and negative cascade. The blue is in the same places that occurred when I reacted to the cat scan dye. Since then, I’ve had sporadic blue episodes but they -this year- have increased in frequency and length of time. My allergic reactions seem to be limited to excipients in meds. So to date, at 65 hypo , at 65.5 hashi, at 67/68 APS, at 68.5 DLE, at 70 chilblain le. The later by biopsy, the former by labs and no symptoms. Thx

Star13 profile image
Star13 in reply to phirestar

Try Dr Jill Schofield - she sounds right up your street! I hope things work out.

centerformultisystemdisease...

phirestar profile image
phirestar in reply to Star13

Thx I’ll see if I can find out if she has a counterpart in California. It’s likely to be some time before travel is going to be ok. Stay safe.

Hi There,I think you have hit the nail on the head with mast cell activation syndrome.

I’m also In the USA. I have a very severe case of APS.

The antibodies are negative for lupus, but I have sub acute cutaneous lupus erythematous . My rheumatologist said it is not lupus, but I have to be careful not to have exposure to sunlight.

I do have Sjögren’s syndrome, and the SCLE is often paired with Sjögren’s.

Also- Sjögren’s is often paired with MCAS- mast cell activation syndrome

Also- APS is often paired with Sjögren’s, andMCAS. ( according to my American innumologust / APS specialist rheumatologist- Dr Jill Schofield, approximately 50% of APS patients have MCAS. )

Dr Graham Hughes- London lupus centre- calls it “The big three.”

APS/Lupus- Sjögren’s- and Thyroid dysregulation

These three often are seen together. Usually it’s either a low thyroid, or actual autoimmune thyroiditis.

I don’t have sjogrens. I do have minor dry eye which is probably due to wearing contacts since I was 10. All eye exams are good. I’m consistently negative for lupus /no symptoms. The biopsy was to rule out microthrombi due to the APS antibodies and instead I got a dx leaning toward chilblain lupus erthematosus. When I looked that up is rare and depending on who one reads there are somewhere around 70+ in the USA. My derm ordered a DRVVT and PPTla along w a bunch of other rule out labs. Everyone was surprised w a positive DRVVT and negative PPTla. Took about a year to get the rest of the labs. I have one negative for lupus anticoagulant and I continue to be positive for DRVVT. I’m positive on the igm antibodies for the other two. They all stay basically in the same range (low/medium). I’m continually negative for SLE /no symptoms. So at 70 I can now add another unusual dx for age/lack of symptoms. I was dx hypo at 65 and 8 months later hashi. Despite where labs are I seem to be asymptomatic which surprises docs bc tsh has been as high as 59. I had a bad reaction to Liothyronine (don’t think I need it) but doc added bc total t3 was .1 over range. A couple of months later, my thyroid antibodies skyrocketed and my compliment c4 tanked and my c3 went low a few over bottom of range. I had an ultrasound on legs,toes, feet today ordered by rhuemy. I’m looking for a topical vasodilator for toes bc I’m concerned about a calcium channel blocker bc no BP problems and I’ve read where many have bad experiences. My blue torsion really hurt, have blisters or anything else - they just turn blue in the same places as my reaction to the cat scan dye. Under prior Medicare plan, I tried to get a referral to an immunologist but first was strictly an allergist and second wasn’t accepting new immunology patients and between those i maxed out availability in that network. I’m in Sacrameno and it’s completely network locked. Thx for the info.

Glad you posted, phirestar! cause I was recently diagnosed with chilblain lupus erythematosus (CLE) following on from all my clinicians puzzling for 16 months over sudden severe onset persistent atypical finger lesions. You & the folk who’ve replied are the only CLE patients I’ve ever encountered, anywhere!

For what it’s worth, here’s my angle on this:

My medics think my history indicates my version of CLE was infant onset, ie my lupus was clinically diagnosed by a NYC specialist in 1954 due to a dreadful sudden onset persistant rash over my upper torso & arms....back then lupus diagnostics etc were relatively basic

As the decades passed, my lupus went inadequately medicated, so multisystem debilitation progressed...eg I was constantly managing dreadful weeping pernio + the signs & symptoms of early onset raynauds, multisystem small fibre neuropathy etc, with Erythromelalgia eventually manifesting, alongside evidence of blood pooling etc. My medics think all that was SLE gradually developing off my CLE

I moved to the U.K. @ 21, where the NHS took nearly 40 years to figure out how to adequately medicate my mix of immune dysfunction & connective tissue disorder illness, partly because I am seronegative for everything due to an early onset Primary Immunodeficiency Disease (PID) called Antibody Deficiency Disease (in my case: panhypogammaglobulinaemia). I’m also diagnosed with hypermobile Ehlers Danlos Syndrome...and the usual SLE secondaries (sjogrens, small vessel vasculitis, Livedo reticularis, Gyn stuff, ENT stuff, severe cornea inflammation etc etc) - all of which were relatively early onset

my lead clinicians are at a major U.K. Univ hospital (Immunology + Rheumatology + Gastroenterology). But because my SLE meds were effective enough to make my CLE lesions quite atypical (non-perforating etc), it took a clever true detective dermatologist at our smaller local hospital to actually figure out CLE is causing these horrible lesions. So, multidiscipline the consensus is that rheumatology has me on the typical longterm meds for what the NHS classifies as ‘moderate’ SLE (hydroxy, Myco, pred) + immunology’s longterm immunomodulation dose IVIG & daily antibiotics are helping + various other meds: all of which somehow are also keeping my CLE reasonably well damped down - & when I recently sensed the first hints of lesions developing, I followed my dermatologists orders to apply Dermovate immediately 2x daily for a few days: this seems to have worked!

NB I can’t take vasodilator cause my Erythromelalgia blasts off, so my rheumy has me on low dose losartan for the Raynauds ‘bone chilling’.....losartan helps certain scleroderma patients with raynauds, so maybe there’s scleroderma in my mix too (my GI stuff points to this too). But the blood pooling seems to just continue despite all my meds

My lead clinicians think pretty much all the above is due mainly to genetic predisposition (inc suspected maternal line MCAD) + 5 months daily exposure in utero to the internationally notorious endocrine disruptor DES (diethylstilbestrol, the Hidden Thalidomide), but who really knows?! Here’s a DES link, in case you or anyone else are interested:

rarediseases.info.nih.gov/d...

Hope something in there can be useful in some way..

❤️🍀❤️🍀 Coco

I have a completely unremarkable medical history prior to 65 when I was dx’d w hypo and put on a med - the only thing I was taking. My research indicated that reactions were t,b, and mast cell activated - all firsts at 65/66. Once on a hypoallergenic med, all stopped and haven’t resurfaced for the last4+years. My first ‘blue episode’ was at 66 and an immediate reaction to omnipaque 300 (cat scan dye). After that, I’d very sporadically turn blue on same toes/fingers for a couple of years. I finally took pics to show derm bc I’d played in the freezer(organizing) and this episode lasted longer both in time and days but would disappear in between. She thought raynaulds,rhuemy thought acrocyanosis. Under a new Medicare plan at 70, new rhuemy (from derm) agreed that I don’t profile for either which has been a mystery to me for some time and saw toes, ordered a toe biopsy and an ultrasound on legs,feet, toes. The biopsy came back favoring chilblain le bc of results instead of (normal?) chilblain bc of lichenoid/interface w superficial to deep perivascular lymphatic inflammation which apparently favors chilblain le. The ultra sound came back w mild arteriosclerosis. So far, some toes just turn blue as do some fingers. They don’t hurt, don’t blister but sometimes there is some mild discomfort like when one stubs their toe. I did my genetics at 67 bc I couldn’t wrap my head around being asymptomatic for hypo/hashi with the reactions I had. I carry a trait snp for APS, sickle cell(goes back to the 1400’s ) and one for possible multiple chemical sensitivity. I’ve continually tested negative for SLE and no symptoms. At the time of the cat scan, I hadn’t done genetics but I’ve looked into that since then and there’s not much about turning blue except that a cyanotic episode is rare. I was also freezing cold among other reactions. I recently had a hypersensitivity reaction to a t3 med (don’t think I ever needed it but that’s a different story. So what I find interesting is that I’m asymptomatic fir hypo/hashi w some really wonky labs, APS dx at 68/69 igm positive on antibodies (low medium) positive DRVVT and negative PPTla. DLE dx by biopsy about 8 months after first APS lab. I’ve had several ANA and positive was a couple of years ago but cascade was negative. Had one where SSA was .1 over range while I was reacting to first thyroid med. my latest SSA was .7 under range so negative. Another positive w speckled pattern cascade negative other were negative. My ds DNA has been continually negative. I don’t think that mild arteriosclerosis would affect blood flow to my toes and the biopsy was done to rule out microthrombi (APS related), so I guess I’m left w just another unusual/rare disease for my age at dx. The rhuemy is wanting to discuss a calcium channel blocker but I’m leaning toward a topical bc of my weird reactions to meds. I’m also considering asking for a referral to an immunologist. I’m looking up your topical. When I looked up chilblain le, it said rare, listed in NORD, and 70+ cases reported! Don’t know how accurate that is. I told my rhuemy that part of my wild theory is that the blue reaction to omnipaque 300 may have triggered a sickle cell crisis of some kind and somehow, this might relate to APS along w my reactions to meds. My guess is that you’re about my age but you’ve dealt w so many other health issues along the way it must have been very frustrating bc I know how frustrated I am just in the last 5 years! Your one strong person.

Barnclown profile image
Barnclown in reply to phirestar

Many thanks for every detail you’re sharing with us! Helps me a lot...& I hope this fascinating discussion helps you feel your way forward through the complexities of the diagnostic & treatment process. Am hoping you’ll let us know how you get on XOXO

phirestar profile image
phirestar in reply to Barnclown

After much thought and research, I’m thinking about :

Calcineurin inhibitors (CNI) are a family of three drugs (cyclosporine, tacrolimus, and pimecrolimus) that clinicians can use to suppress the immune system.Dec 14, 2020

ncbi.nlm.nih.gov › books

Calcineurin Inhibitors - StatPearls - NCBI Bookshelf

I called my PBM and it’s $100 copay for 30 days for both. Ralphs (grocery store pharmacy has tacrolimus for $36! As I seem to have reactions to systemic meds, I’ve been researching topicals. A tier exception is being requested -haven’t had much luck w those in the past. My thinking is that if my dx are related to immune dysfunction then a drug (topical) that is a immune suppressant might be more beneficial and a topical avoids any potential excipient problem. Thought I’d mention this for investigation if any are interested. Just got an em from pcp who is suggesting all the autoimmune protocols which don’t seem to fit as I’ve been doing much of what he suggests for about 5 years. I’m also thinking about getting a referral to an immunologist bc my trait status has potentially been linked to AID. In addition, my lack of symptoms along w dx that can be linked to med reactions doesn’t seem to support these protocols.

Barnclown profile image
Barnclown in reply to phirestar

Good thinking! Many thanks for every detail! Hope you’ll keep us posted 🍀❤️

phirestar profile image
phirestar in reply to Barnclown

Got nifedipine topical compound. Rhuemy wouldn’t rx the calcineurin inhibitors. I’m not filling it now as the shelf life is 6 months and my 2 toes are almost healed. They peel - like in a sunburn and new skin underneath. I’m not sure how well the cream will work as it doesn’t address anything other than acting as a vasodilator and from ultrasound, I don’t have a blood flow problem. The inhibitors address t and B cells along w a few others that are Identified as possible causes for chilblain le. In further research, I may have figured out what triggered the chilblain le. I’m a carrier of sickle cell - trait. Got this from genetics (at 67) and confirmed w labs (70). My hemoglobin is 38.6% HbS. Iohexol is contradicted in abnormal hemoglobin. Trait doesn’t precipitate a crisis unless exposed to certain criteria. - under the right conditions, hypoxia, dehydration, increase in sympathetic outflow, hypothermia/hyperthermia and 2 more, the HbS will result in clogging of tiny capillary vessels. (ncbi.nim.nih.gov). I’m sure my core body temp dropped enough to cause hypothermia bc of how cold I was. Multiple hot blankets couldn’t alienate my cold and shaking for at least 30 minutes. My smurfing is in the same places where I reacted to the iohexol. While I have antibodies for APS, I don’t have any of the others that are associated w chilblain le. There is a sporadic version of chilblain le and since mine start around January and go through March - give/take, I might have the sporadic version. The iohexol is the only extreme cold event that I’ve ever experienced. There are no approved drugs for chilblain le- the go to is meds for raynaulds - mostly calcium channel blockers and some use viagra. My update for now in this ongoing saga.

Barnclown profile image
Barnclown in reply to phirestar

Thanks V Much phirestar! I was hoping you’d join this discussion! Yikes: You’re managing A Lot ...& clearly you’re v knowledgeable. Hope you’ll keep updating us. So far, I’ve never heard of topical nifedipine: but I’m in the U.K. 🍀❤️

phirestar profile image
phirestar in reply to Barnclown

Topical nifedipine needs to be compounded by a compounding pharmacy. For me the advantage is it’s not systemic so I don’t need to worry about BP (mine is normal), I don’t have blood flow issues, and I avoid the watch list excipients. I’ve reacted to 3/4 thyroid meds and 4/5 Rosuvastatin manufacturers in 5 years. I would guess that there are compounding pharmacies in the U.K.

Barnclown profile image
Barnclown in reply to phirestar

Hoping it works for you ‼️. The U.K. has maybe 1 or 2 compounding pharmacies...these really are not mainstream here because our health establishment is pretty much rules by the national health system. Niw & then my NHS clinicians have had to consult NHS clinical pharmacology due to my increasing hypersensitivity, but so far even they have failed to come up with anything helpful. These things are very different here. 🤷🏼‍♀️ I have USA family & friends so am familiar with compounding pharmacies 👍🍀❤️

I was diagnosed with Chilblain Lupus in late August 2020. I also have the peeling that you describe. Prior to my diagnosis by a rheumatologist, I was seen by a vascular specialist due to my very blue/purplish toes. I was prescribed nifedipine tablets, while waiting on test results. The nifedipine caused a very bad reaction for me: very hot and flushed face, hands and feet/toes. I had to stop using after just a few days of trial. Hopefully, the topical does not cause similar reactions. That was last winter. Then during the summer hot months I started having burning, red feet/toes, very much like erythromelalgia symptoms. Now this winter I switch often between cold, blueish feet/toes and burning, red, hot feet/toes. My toes never look a normal color. And my toes are so very sensitive to touch.

phirestar profile image
phirestar in reply to GrandMAptm

It sounds like your’s is progressing faster than mine did. After mine peel - for the last 2 years, they seem to be normal. After biopsy, rhuemy rx’d nifedipine systemic but I wanted to try one of the topical inhibitors. She’s not comfortable rxing something that she doesn’t know anything about. Compromised w the topical nifedipine. As mine are now showing more normal - seems to be what happens after they peel, I’m going to wait till they surface again - usually around January (last 2 years) to get the topical nifedipine bc the shelf life is 6 months. I’m in the USA - California. Where do you live?

GrandMAptm profile image
GrandMAptm in reply to phirestar

I live in TN, USA. I am 70 years old. All of this came on fairly fast for me just a little over a year ago. It has changed my life dramatically. I used to be very active hiking, now I can't even walk down my street. So far all my toes have been affected except the littlest toe on each foot. The nails of those toes have also been affected. Many have fallen off and never regrow. More will follow in the future. I had loads of unusual symptoms that affected other parts of my body way back when all this started (Dec. 2019), but thank goodness many of those have gone away. Now my main symptoms involve my feet/toes/ankles, fingers/knuckles, tightness of leg muscles, and burning pain in hips and upper back/shoulder blades.

phirestar profile image
phirestar in reply to GrandMAptm

I lived in mt Juliet for several years! I’m 71 today. Some of your symptoms sound like they might be related to SLE. Have you looked into that? This is associated w a couple of ANA antibody markers but I don’t have any of those. They’ve been testing my ANA since 2015 and my cascades are negative I’ve had 2 positive.

GrandMAptm profile image
GrandMAptm in reply to phirestar

That's interesting that you have a TN connection. I live in a small town west of Knoxville. Back in April when I first met with my rheumatologist, I had extensive blood work done (7 vials worth of blood needed!) to try to get a diagnosis. However, everything came back fine except a very weak positive ANA (1:80 with a homogenous pattern). That is why in June I had a punch skin biopsy done on my big toe. The dermatologist diagnosed Mixed Connective Tissue Disease. However, my rheumatologist, who saw me many more times, was not satisfied with that diagnosis. I provided my rheumatologist with detailed updates about every 2 weeks via the messaging on my patient portal. I also took pictures of visible symptoms and provided those at my appointments. So, because of all that information and consultations with many of his colleagues, my rheumatologist changed my diagnosis to Chilblain Lupus at the end of August 2020.

Will update here. After hemo ran a hemoglobinopathy, I have sickle beta thalassemia which is extremely unusual for me - a Caucasian at 71. It’s a mild form of sickle cell disease. A different rhuemy rx’d nitro bid and the hemo thought this would be better bc of the sickle beta thal. I’ve expanded my winter boot(bigger size)/sock collection (alpaca) and adding a darn or a felting to sock toes for coming winter. Some of what I’ve bought comes from the Great Britain. I bought a felting pad from GB. I’ve found that lambs wool helps if toes are sore or uncomfortable and wrap it around toes. It seems to help. I bought a digital thermometer and take toe/foot temps to see if I can hone in on a temp range. With the digital thermometer, I can see what things I’m doing that either increases temp (it often just says low), to have the thermometer register a temp. The nitro bid seems to help bc it acts as a vasodilator and also does something to enhance oxygen levels. I sometimes paint my toe pads. It’s an ongoing experiment!

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